System
Education Objective
Social
Sciences
(Ethics/Leg
al/Professi
onal)
Having an explicit discussion about confidentiality and its exceptions is important to maintaining a trusting physician-patient relationship with adolescents. They should be informed that everything they
discuss will be kept private with a few exceptions as required by law, which include suicidal or homicidal ideation, abuse, and neglect.
Social
Sciences
(Ethics/Leg
al/Professi
onal)
Discussions regarding advance care planning for adolescents with chronic, life-limiting illnesses (e.g. cystic fibrosis) should take a family-centered approach and directly involve the adolescent patient.
Discussion should include information regarding prognosis, care options, and the patient’s and family’s preferences for end-of-life care.
Social
Sciences
(Ethics/Leg
al/Professi
onal)
Adolescent confidentiality regarding sensitive issues, including treatment for sexually transmitted infections, mental health concerns, and substance use, should be protected. When transferring care, it is
preferable to provide the medical record directly to the new provider rather than providing a copy to the parent.
Social
Sciences
(Ethics/Leg
al/Professi
onal)
Central venous catheters are the leading risk factor for thromboembolic events in children; thromboembolism should be suspected when acute hypoxia and hypotension develop following central line
manipulation (e.g. removal, catheter flushing). Thromboembolism risk increases with underlying hypercoagulability (e.g. meningococcemia).
Social
Sciences
(Ethics/Leg
al/Professi
onal)
According to human factors engineering, the most effective error-prevention strategies include computerized automation and forcing functions, which promote correct action with minimal human effort. An
example is a heparin infusion pump with dosing algorithms (automating mathematical conversions) and preset limits (‘blocking’ excess drug administration).
Social
Sciences
(Ethics/Leg
al/Professi
onal)
The Plan-Do-Study-Act and Plan-Do-Check-Act paradigms are quality improvement tools. They are 4-step cyclical processes with the goal of continual improvement.
Social
Sciences
(Ethics/Leg
al/Professi
onal)
Informed consent by a parent or guardian is required prior to providing nonemergency medical treatment to a minor. A court order is required if a parent refuses nonemergency yet life-sustaining treatment.
Social
Sciences
(Ethics/Leg
al/Professi
onal)
Parental consent is required prior to providing non-emergency medical care for a minor who does not qualify for confidential care (e.g. pregnant) or is not emancipated (e.g. married). Assent from the child is
ideal but not required to proceed with treatment.
Social
Sciences
(Ethics/Leg
al/Professi
onal)
Disclosure of an HIV diagnosis to a child with perinatally acquired infection should occur by adolescence to foster patient autonomy, increase medication compliance, and prevent transmission. The provider
should respect the family’s concerns and offer joint participation in establishing a timeline and plan for disclosure.
Social
Sciences
(Ethics/Leg
al/Professi
Parent-requested drug testing without the knowledge of an adolescent is not recommended. Responding to the request should include exploration of the parents’ concerns, education about the limitations of
drug testing, and evaluation of the patient privately.
onal)
Social
Sciences
(Ethics/Leg
al/Professi
onal)
Parents who are themselves minors can give consent to medical care for their child. However, consent is not required in emergency situations, and parents cannot refuse life-saving treatment for their child.
Social
Sciences
(Ethics/Leg
al/Professi
onal)
Physicians should have a high suspicion for abuse in children with sudden changes in mood, behavior, or academic work, as well as in children with stressful family environments or parents with active
drug/alcohol abuse.
Social
Sciences
(Ethics/Leg
al/Professi
onal)
When caring for an unemancipated minor, informed consent from one parent or guardian is considered legally sufficient to justify proceeding with therapy. Physicians should also provide care in urgent
situations without waiting for parental consent.
Social
Sciences
(Ethics/Leg
al/Professi
onal)
In a non-emergency situation in which a parent refuses potentially life-saving treatment for their child, the physician should seek a court order mandating treatment.
Rheumatol
ogy/Orthop
edics &
Sports
Henoch-Schönlein purpura is an IgA-mediated vasculitis most commonly seen in children. Diagnosis is clinical, and no further testing is required in patients with palpable petechiae/purpura plus > 2 of the
following: arthralgia, abdominal pain, and renal disease. Skin biopsy is performed for atypical or incomplete presentations.
Rheumatol
ogy/Orthop
edics &
Sports
Clubfoot is a developmental deformity of the talus bone and presents as a fixed, plantar flexed foot that is adducted and internally rotated. Initial treatment is stretching with serial molding casts.
Rheumatol
ogy/Orthop
edics &
Sports
School-age children should participate in > 1 hour of daily activity, such as aerobic exercise with or without strength (or resistance) training. Strength training is safe and effective when performed properly,
such as with direct supervision and use of proper techniques in a cognitively mature child.
Rheumatol
ogy/Orthop
edics &
Sports
Duchenne muscular dystrophy should be considered in a toddler boy who has weakness, delayed walking, and bilateral calf enlargement. The absence of dystrophin in cardiac muscle can also lead to
dilated cardiomyopathy and conduction abnormalities. Patients should be screened with an echocardiogram and ECG.
Rheumatol
ogy/Orthop
edics &
Sports
The oligoarticular form of juvenile idiopathic arthritis (JIA), the most common subtype, is characterized by arthritis involving < 4 joints. Patients are classically girls age < 5. Regular ophthalmologic screening
is indicated because uveitis is a serious potential complication of oligoarticular JIA that can cause irreversible vision loss if untreated.
Rheumatol
ogy/Orthop
edics &
Sports
Polyarticular juvenile idiopathic arthritis (JIA) presents as joint pain and stiffness involving > 5 joints that is worse in the morning and improves over the course of the day. Individuals with polyarticular JIA are
predominantly female, and the incidence peaks during adolescence and the toddler years. Nonsteroidal anti-inflammatory drugs (e.g. naproxen) are the first-line treatment.
Rheumatol
ogy/Orthop
edics &
Toddler’s fractures, or spiral tibial fractures, are seen in children during the first few years of walking. Injury typically occurs following a twisting motion during a minor fall. Spiral fractures may be suspicious
for nonaccidental trauma if the history is inconsistent or if the child is not yet ambulatory.
Sports
Rheumatol
ogy/Orthop
edics &
Sports
Greenstick fractures of the forearm are common in children due to relatively strong periosteum, which limits the fracture line from extending through the width of the bone. Treatment is immobilization to
prevent refracture, and no long-term complications are expected.
Rheumatol
ogy/Orthop
edics &
Sports
Transient synovitis is a self-limiting, inflammatory hip condition most common in children age 3-8. Presentation may include limp (with ability to bear weight), hip pain, or pain referred to the knee. Most
patients are afebrile with normal laboratory studies (e.g. white blood cell count, C-reactive protein) and small, bilateral hip effusions.
Rheumatol
ogy/Orthop
edics &
Sports
Slipped capital femoral epiphysis, which occurs most commonly among obese adolescents, is characterized by proximal femoral displacement relative to the femoral head along the growth plate. Bilateral
involvement is common and may present with chronic hip, thigh, or knee pain and a waddling gait.
Rheumatol
ogy/Orthop
edics &
Sports
Acute, atraumatic hip pain in children is typically caused by transient synovitis, which presents in well-appearing children who are often afebrile and able to ambulate. However, patients with features
concerning for septic arthritis (e.g. inability to ambulate, leukocytosis) require bilateral hip ultrasound, with or without arthrocentesis, to distinguish between the conditions.
Rheumatol
ogy/Orthop
edics &
Sports
Calcaneal apophysitis is a common cause of heel pain in children who play running or jumping sports. Tenderness at the base of the heel and with calcaneal compression are diagnostic findings. Treatment
is supportive.
Rheumatol
ogy/Orthop
edics &
Sports
Septic arthritis is usually caused by gram-positive aerobic bacteria, particularly Staphylococcus aureus. Therefore, empiric treatment with vancomycin is generally adequate. However, a minority of patients
have continued symptoms despite a few days of vancomycin treatment, which usually indicates infection with a gram-negative bacterium. These patients require the addition of an antibiotic that covers
aerobic gram-negative pathogens, such as a third-generation cephalosporin (e.g. ceftriaxone).
Rheumatol
ogy/Orthop
edics &
Sports
Neisseria gonorrhoeae contracted via unprotected sexual intercourse can cause disseminated gonococcal infection, presenting with monoarticular arthritis with or without a pustular rash. Concurrent
features of gonococcal mucosal infection (e.g. cervicitis) are usually absent, and synovial fluid culture may be negative.
Rheumatol
ogy/Orthop
edics &
Sports
In patients with juvenile idiopathic arthritis who have an atypical flare of a single joint, such as severe pain with nighttime awakening, septic arthritis should be considered. An elevated synovial leukocyte
count > 50,000/mm3 with a neutrophil predominance supports the diagnosis. Treatment is immediate antibiotic therapy.
Rheumatol
ogy/Orthop
edics &
Sports
The presentation of septic arthritis in infants can be subtle and may include fever, lack of movement of the involved joint, excessive fussiness (e.g. during diaper changes), or asymmetric swelling.
Rheumatol
ogy/Orthop
edics &
Sports
Cardiac sequelae of Kawasaki disease include coronary artery aneurysms and ventricular dysfunction. These complications are more common in infants and those with prolonged fevers or treatment delay.
Rheumatol
ogy/Orthop
edics &
Sports
In addition to an increased risk of coronary artery aneurysms, Kawasaki disease increases risk of ventricular dysfunction due to lymphocytic myocarditis, particularly in infants. Patients can have heart failure
symptoms (e.g. diaphoresis with feeds) and signs (e.g. hepatomegaly, pulmonary edema, S3 gallop).
Rheumatol
ogy/Orthop
edics &
Kawasaki disease presents with fever lasting > 5 days, in addition to conjunctivitis, mucositis, rash, extremity edema, and cervical lymphadenopathy.
Sports
Rheumatol
ogy/Orthop
edics &
Sports
Symmetric genu varum, or bowed legs, is typically physiologic from birth and resolves by age 2. Management is reassurance and observation.
Rheumatol
ogy/Orthop
edics &
Sports
Metaphyseal corner fractures, or bucket-handle fractures, occur when an extremity is pulled or twisted. These fractures are a red flag for child abuse and should prompt a skeletal survey to evaluate for
additional occult fractures.
Rheumatol
ogy/Orthop
edics &
Sports
Systemic juvenile idiopathic arthritis is an autoinflammatory disorder of childhood characterized by arthritis for > 6 weeks and fever for > 2 weeks. Hepatosplenomegaly and lymphadenopathy are common,
and quotidian fevers (spiking once daily) are often accompanied by an evanescent pink rash.
Rheumatol
ogy/Orthop
edics &
Sports
Systemic juvenile idiopathic arthritis is characterized by quotidian fever for > 2 weeks, fixed arthritis for > 6 weeks, and a pink macular rash that worsens during fever. Laboratory evaluation typically reveals
leukocytosis, thrombocytosis, elevated inflammatory markers, and anemia.
Rheumatol
ogy/Orthop
edics &
Sports
Osteoid osteoma is a benign, bone-forming tumor that presents with increasing pain that is worse at night and is unrelated to physical activity; the pain improves with nonsteroidal anti-inflammatory
medication. Radiograph demonstrates a single small, round lucency.
Rheumatol
ogy/Orthop
edics &
Sports
Osteosarcoma is the most common primary bone tumor in children and young adults and typically involves the metaphyses of long bones. Physical examination typically shows a large and tender mass.
Classic x-ray findings include ‘sunburst’ periosteal reaction and Codman triangle.
Rheumatol
ogy/Orthop
edics &
Sports
Compartment syndrome is a rare complication of supracondylar humerus fractures, particularly those that are displaced or occur in conjunction with forearm fractures. Initial symptoms may include
increasing swelling and pain that is unresponsive to escalating analgesics.
Rheumatol
ogy/Orthop
edics &
Sports
Transient synovitis presents with hip pain and limp in young children following a mild viral illness. In contrast to septic arthritis, patients are typically well-appearing, weight-bearing, and afebrile with normal
laboratory results (i.e. white blood cell count, inflammatory markers). Treatment is rest and nonsteroidal anti-inflammatory medications (e.g. ibuprofen).
Rheumatol
ogy/Orthop
edics &
Sports
Osgood-Schlatter disease, a common cause of knee pain in young adolescents, is caused by a traction apophysitis of the tibial tubercle. Patients typically have pain exacerbated by activity, and examination
reveals prominence and tenderness over the tibial tubercle.
Rheumatol
ogy/Orthop
edics &
Sports
Slipped capital femoral epiphysis (SCFE), which causes hip pain and limp, is characterized by displacement of the proximal femur relative to the femoral head along the growth plate. Obesity is a risk factor,
but SCFE may also be seen in tall, thin adolescents during periods of accelerated growth.
Rheumatol
ogy/Orthop
edics &
Sports
Patients with Down syndrome are at increased risk of atlantoaxial instability. When symptomatic, atlantoaxial instability can present with upper motor neuron findings, urinary/fecal incontinence, gait
changes, or weakness.
Rheumatol
ogy/Orthop
edics &
Acute rheumatic fever, a complication of streptococcal pharyngitis, is diagnosed clinically using the Jones criteria, which include fever, migratory polyarthritis, erythema marginatum, and elevated acutephase reactants.
Sports
Rheumatol
ogy/Orthop
edics &
Sports
Patients with Kawasaki disease are at risk for developing coronary artery aneurysms and thrombosis and should be routinely evaluated by echocardiography. Early treatment with intravenous
immunoglobulin and aspirin decreases cardiac risk.
Rheumatol
ogy/Orthop
edics &
Sports
Kawasaki disease is a vasculitis characterized by fever for > 5 days and > 4 of the following findings: nonexudative conjunctivitis, extremity changes, cervical lymphadenopathy, mucositis, and polymorphous
rash.
Rheumatol
ogy/Orthop
edics &
Sports
Osteogenesis imperfecta is an autosomal dominant connective tissue disorder that presents with frequent fractures, joint hypermobility, and dentinogenesis imperfecta. Additional features include blue
sclerae, hearing loss, and short stature.
Rheumatol
ogy/Orthop
edics &
Sports
Congenital muscular torticollis is a postural neck deformity due to tightening of the sternocleidomastoid muscle and presents with ipsilateral head tilt and contralateral chin deviation. A fibrotic neck mass
may be present on examination, and limited range of motion of the neck increases the risk of positional plagiocephaly.
Rheumatol
ogy/Orthop
edics &
Sports
Langerhans cell histiocytosis frequently presents with lytic bone lesions and an eczematous rash. Additional presenting signs can include central diabetes insipidus, lymphadenopathy, hepatosplenomegaly,
and cough.
Rheumatol
ogy/Orthop
edics &
Sports
Serum sickness-like reaction is most commonly caused by β-lactams and sulfa drugs. Symptoms arise 1-2 weeks after exposure and include fever, urticarial rash, arthralgia, and lymphadenopathy. The
abnormalities should resolve with withdrawal of the offending agent.
Rheumatol
ogy/Orthop
edics &
Sports
Drooping of the contralateral hemipelvis below its normal horizontal level during monopedal stance constitutes a positive Trendelenburg sign. It is caused by weakness or paralysis of the gluteus medius and
minimus muscles, which are innervated by the superior gluteal nerve.
Rheumatol
ogy/Orthop
edics &
Sports
Legg-Calve-Perthes disease (idiopathic osteonecrosis of the femoral epiphysis) classically presents in young children with progressive leg pain and/or a limp. Decreased hip range of motion and thigh
muscle atrophy may be present on examination, and x-ray shows a flattened and fragmented femoral head.
Rheumatol
ogy/Orthop
edics &
Sports
Spondylolisthesis is the anterior slippage of a vertebral body due to bilateral defects of the pars interarticularis (spondylolysis). Classic presentation is an adolescent with low back pain exacerbated by
lumbar extension.
Rheumatol
ogy/Orthop
edics &
Sports
Lyme arthritis is the hallmark of late Lyme disease due to Borrelia burgdorferi infection. The presentation is most commonly a monoarticular arthritis of the knee that occurs in a weight-bearing, afebrile
patient. Synovial fluid analysis shows inflammation, but Gram stain and culture are usually negative.
Rheumatol
ogy/Orthop
edics &
Sports
Osteogenesis imperfecta is an autosomal dominant connective tissue disorder caused by mutations in the type I collagen (COL1A1) gene. Patients typically present with recurrent fractures, joint
hypermobility, short stature, and hearing loss.
Rheumatol
ogy/Orthop
edics &
Metatarsus adductus is a congenital foot deformity in which the forefoot turns inward. In the majority of cases, the foot is flexible and the condition resolves spontaneously.
Sports
Rheumatol
ogy/Orthop
edics &
Sports
Radial head subluxation occurs when infants or children are lifted or pulled by the hand or arm. The child typically keeps the hand in a pronated position and refuses attempted forearm supination. Reduction
by forearm hyperpronation or supination plus flexion is diagnostic and therapeutic.
Rheumatol
ogy/Orthop
edics &
Sports
Growing pains are bilateral, lower-extremity pains that occur at night in children age 2-12 years. Children with growing pains have no systemic symptoms, normal activity levels, and normal physical
examination. Treatment consists of observation, parental reassurance, massage, and over-the-counter pain medications.
Rheumatol
ogy/Orthop
edics &
Sports
Henoch-Schönlein purpura (HSP) is an IgA-mediated vasculitis that presents most common in children with palpable purpura, abdominal pain, arthralgia/arthritis, and hematuria. Children with HSP are at
increased risk for ileoileal intussusception due to intestinal edema and bleeding.
Rheumatol
ogy/Orthop
edics &
Sports
Subluxation of the radial head is common in preschool children. The classic mechanism is swinging or pulling a child by the arm. Full recovery after closed reduction by forearm hyperpronation confirms the
diagnosis.
Rheumatol
ogy/Orthop
edics &
Sports
Adolescent idiopathic scoliosis (i.e. lateral curvature of the spine) typically progresses until growth and bone ossification are complete. Risk factors associated with curve progression include female sex, age
< 12, premenarchal status, skeletal immaturity, and initial severe curvature.
Rheumatol
ogy/Orthop
edics &
Sports
Legg-Calve-Perthes disease, or avascular osteonecrosis of the femoral head, typically presents in boys age 3-12 with insidious-onset hip or (referred) knee pain and an antalgic gait. X-rays may be normal
in early disease but demonstrate abnormalities (e.g. femoral head flattening, fragmentation, sclerosis) with chronic symptoms.
Rheumatol
ogy/Orthop
edics &
Sports
Slipped capital femoral epiphysis is characterized by proximal femoral displacement relative to the femoral head along the growth plate. Patients with hypothyroidism are at increased risk due to impaired
ossification of the growth plate. Treatment is surgical stabilization of the physis to prevent further slippage.
Rheumatol
ogy/Orthop
edics &
Sports
Suspected developmental dysplasia of the hip (e.g. asymmetric gluteal/thigh/inguinal creases, apparent leg-length discrepancy) in early infancy should be evaluated with hip ultrasound.
Rheumatol
ogy/Orthop
edics &
Sports
Ewing sarcomas are malignant tumors that occur most commonly in the pelvis and long bones of white, adolescent boys. Localized pain and swelling can be accompanied by systemic findings and
characteristic ‘onion skinning’ (i.e. lamellated periosteal reaction) and ‘moth-eaten’ appearance on x-ray.
Rheumatol
ogy/Orthop
edics &
Sports
Rickets presents with craniotabes (soft skull bones), enlarged costochondral joints, and progressive genu varum. Risk factors for nutritional rickets due to vitamin D deficiency include increased skin
pigmentation, limited sun exposure, and insufficient dietary intake (e.g. exclusive breastfeeding without vitamin D supplementation).
Rheumatol
ogy/Orthop
edics &
Sports
Transient synovitis of the hip is a benign, self-limiting condition in children age 3-8 that typically presents with acute hip/thigh pain and limp following a viral illness. Patients are generally well-appearing and
afebrile without laboratory evidence of significant infection or inflammation. Treatment is supportive, including nonsteroidal anti-inflammatories (e.g. ibuprofen).
Rheumatol
ogy/Orthop
edics &
Kawasaki disease is characterized by fever > 5 days in addition to > 4 of the following clinical features: conjunctivitis, mucositis, rash, extremity changes, and cervical lymphadenopathy. Laboratory findings
that suggest inflammation (e.g. thrombocytosis, elevated erythrocyte sedimentation rate) support the diagnosis.
Sports
Renal,
Urinary
Systems &
Electrolytes
IgA nephropathy commonly presents with recurrent episodes of gross hematuria within days of an upper respiratory infection, and most patients follow a benign clinical course. However, risk factors for slow
progression to end-stage renal disease include elevated creatinine, hypertension, and persistent and significant proteinuria.
Renal,
Urinary
Systems &
Electrolytes
Acute poststreptococcal glomerulonephritis, a type of postinfectious glomerulonephritis, can occur several weeks after group A Streptococcus infection and presents with acute renal failure. Most cases in
the pediatric population resolve, with complete return to near-normal kidney function in a few weeks. Recurrence is very rare.
Renal,
Urinary
Systems &
Electrolytes
Acute poststreptococcal glomerulonephritis, a complication of group A Streptococcus infection (e.g. pharyngitis), typically presents with hematuria, edema, and hypertension. Management is mainly
supportive. Patients with complications of volume overload (e.g. hypertension, edema) require treatment with loop diuretics.
Renal,
Urinary
Systems &
Electrolytes
Evaluation of neonatal acute kidney injury includes assessment of risk factors, volume status, and a renal and bladder ultrasound (RBUS). RBUS documents the number, shape, and size of the kidneys and
detects vascular abnormalities or congenital anomalies.
Renal,
Urinary
Systems &
Electrolytes
Patients with intravascular volume depletion (e.g. vomiting, diarrhea) normally have increased renal prostaglandin production to dilate the afferent arteriole and maintain the glomerular filtration rate.
Nonsteroidal anti-inflammatory drugs inhibit prostaglandin synthesis, which can cause prerenal azotemia.
Renal,
Urinary
Systems &
Electrolytes
Serum creatinine at birth is equivalent to the serum creatinine of the mother because creatinine passes across the placenta. In healthy term infants, creatinine normalizes over the first 2 weeks of life to a
nadir that reflects neonatal muscle mass.
Renal,
Urinary
Systems &
Electrolytes
Primary nocturnal enuresis is defined as nighttime urinary incontinence in a child age > 5 who has not achieved a prolonged period of nighttime dryness. A family history of bed wetting is the greatest risk
factor for developing this condition.
Renal,
Urinary
Systems &
Electrolytes
Nocturnal enuresis secondary to obstructive sleep apnea should be considered in a child who has bed-wetting in addition to inattention, behavioral concerns, and/or tonsillar hypertrophy. Evaluation is with
nocturnal polysomnography.
Renal,
Urinary
Systems &
Electrolytes
Encopresis (i.e. fecal incontinence) is typically a sign of stool impaction, which can cause or worsen nocturnal enuresis. Resolution of enuresis is often achieved by successfully managing comorbid
constipation (e.g. laxative therapy).
Renal,
Urinary
Systems &
Electrolytes
Chronic kidney disease is a cause of daytime and nighttime urinary incontinence and should be suspected in a child with fatigue, hypertension, proteinuria, and/or a history of urinary tract infections.
Evaluation includes obtaining a serum creatinine level and renal imaging.
Renal,
Urinary
Systems &
Electrolytes
Secondary enuresis, or new-onset nighttime wetting after a > 6-month period of urinary continence, may be caused by an underlying medical condition (e.g. urinary tract infection) or a psychological
stressor. The first step in evaluation is urinalysis.
Renal,
Urinary
Systems &
Hemoglobinuria, in which free hemoglobin is present in the urine, should be suspected in a patient with risk factors for intravascular hemolysis (e.g. mechanical valve) and red/brown urine that is heme
positive but negative for red blood cells. The first step in evaluation of hemolytic anemia is a complete blood count.
Electrolytes
Renal,
Urinary
Systems &
Electrolytes
Glomerular sources of gross hematuria should be considered in a patient with brown urine, red blood cell casts, proteinuria, hypertension, and/or edema. Initial evaluation includes serum complement (C3,
C4) levels.
Renal,
Urinary
Systems &
Electrolytes
Exercise-induced hematuria is a benign condition that can occur in long-distance runners due to traumatic injury to the bladder mucosa from repeated collision of the bladder wall and base. The presence of
urinary red blood cells distinguishes this condition from exertional skeletal muscle injury causing myoglobinuria.
Renal,
Urinary
Systems &
Electrolytes
Hematuria accompanied by dysuria and pyuria is most likely due to a urinary tract infection, and the first step in management is antibiotic therapy. Resolution of hematuria is expected after treatment of
infection.
Renal,
Urinary
Systems &
Electrolytes
Spontaneous tumor lysis syndrome can occur in patients who have hematologic malignancies with high tumor burden or rapid replication rate. It typically presents with acute renal failure due to the formation
of uric acid and calcium-phosphate stones and/or complications (e.g. cardiac arrhythmia) from hyperkalemia.
Renal,
Urinary
Systems &
Electrolytes
WAGR syndrome/11p deletion syndrome is characterized by a predisposition to Wilms tumor and the presence of aniridia, genitourinary abnormalities, and intellectual disability (previously mental
retardation). WAGR syndrome should be considered in a child with 2 or more of the associated conditions. In patients with WAGR syndrome, screening abdominal ultrasound is performed every 3 months in
infancy and early childhood for early detection of Wilms tumor.
Renal,
Urinary
Systems &
Electrolytes
Posterior urethral valves present in newborn boys with bladder distension, decreased urine output, and respiratory distress (due to oligohydramnios and subsequent lung hypoplasia). Initial evaluation
includes renal and bladder ultrasound and voiding cystourethrogram.
Renal,
Urinary
Systems &
Electrolytes
A secondary varicocele should be suspected in a prepubertal boy with a soft, coiled (‘bag of worms’), right-sided scrotal mass that fails to decompress when supine. Abdominal ultrasound is indicated to
evaluate for anatomical causes leading to venous compression (such as a venous thrombus or abdominal mass).
Renal,
Urinary
Systems &
Electrolytes
A voiding cystourethrogram is indicated to assess for predisposing urologic abnormalities (e.g. vesicoureteral reflux) in a child with > 2 febrile urinary tract infections, abnormal renal ultrasound, high fever
with an unusual pathogen, or signs of chronic kidney disease.
Renal,
Urinary
Systems &
Electrolytes
Urinary tract infections typically improve within 48 hours of appropriate antibiotic therapy. In children with persistent symptoms (e.g. fever), antibiotics should be broadened, and renal and bladder
ultrasonography should be obtained to evaluate for anatomic abnormalities or the development of a renal abscess.
Renal,
Urinary
Systems &
Electrolytes
Urinary tract infections are most commonly caused by gram-negative bacteria (e.g. Escherichia coli) and can present with fever and fussiness in an infant. The presence of nitrites and leukocyte esterase on
urinalysis is characteristic. Empiric therapy with a third-generation cephalosporin is recommended.
Renal,
Urinary
Systems &
Electrolytes
Young children may have an atypical presentation of nephrolithiasis with isolated gross hematuria in the absence of abdominal or flank pain. Due to radiation exposure associated with CT scans, renal and
bladder ultrasound is the preferred imaging study in children to detect stones.
Renal,
Urinary
Systems &
Postinfectious glomerulonephritis is a complication of group A streptococcal impetigo or pharyngitis. Pathogenesis involves deposition of immune complexes in the glomerular mesangium and basement
membrane, resulting in hematuria, edema, and hypertension.
Electrolytes
Renal,
Urinary
Systems &
Electrolytes
Isotonic solutions such as normal saline are the fluid of choice for initial resuscitation in severe hypovolemic hypernatremia.
Renal,
Urinary
Systems &
Electrolytes
Renal tubular acidosis is caused by a defect in either hydrogen excretion or bicarbonate reabsorption in the kidney. In infancy, it most commonly presents with failure to thrive due to a chronic, normal anion
gap metabolic acidosis. Treatment consists of oral bicarbonate replacement.
Renal,
Urinary
Systems &
Electrolytes
Posterior urethral valves are the most common cause of urinary tract obstruction in newborn boys. Oligohydramnios from urinary obstruction can lead to Potter sequence, which is characterized by
pulmonary hypoplasia, flat facies, and limb deformities.
Renal,
Urinary
Systems &
Electrolytes
Hyposthenuria is the inability of the kidneys to concentrate urine and can occur in patients with sickle cell disease and sickle cell trait. Patients have polyuria, low urine specific gravity, and normal serum
sodium.
Renal,
Urinary
Systems &
Electrolytes
Henoch-Schönlein purpura is an IgA-mediated small vessel vasculitis that manifests with palpable purpura on the lower extremities, arthralgia/arthritis, abdominal pain, and renal disease (hematuria +/proteinuria). Renal biopsy shows IgA deposition in the mesangium.
Renal,
Urinary
Systems &
Electrolytes
Urinary tract infections (UTIs) are most commonly caused by Escherichia coli ascending the urethra to the bladder. Women often develop UTIs with dysuria, hematuria, and pyuria after sexual activity.
Positive urinary nitrites support the presence of E. coli, and urine culture is diagnostic.
Renal,
Urinary
Systems &
Electrolytes
Minimal change disease is the most common cause of nephrotic syndrome in children. Pathogenesis involves cytokine-induced glomerular injury, which damages epithelial podocytes, leading to a massive
urinary loss of protein, hypoalbuminemia, and edema.
Renal,
Urinary
Systems &
Electrolytes
Minimal change disease is the most common cause of nephrotic syndrome in preadolescent children. Renal biopsy shows normal kidney architecture but is not routinely obtained in patients age < 10.
Steroids are the treatment of choice.
Renal,
Urinary
Systems &
Electrolytes
Minimal change disease is the most common cause of nephrotic syndrome in young children. Renal biopsy is not required for initial diagnosis as the condition is highly responsive to steroids.
Renal,
Urinary
Systems &
Electrolytes
Urinary tract infection should be suspected in an infant with fever > 39 C (102.2 F) with no identifiable source because presentation can be nonspecific (e.g. fussiness, poor feeding). Urinalysis and urine
culture are the first steps in evaluation.
Renal,
Urinary
Systems &
Electrolytes
Cystinuria is an inherited disease causing recurrent renal stone formation. A personal history of recurrent kidney stones from childhood and a positive family history for nephrolithiasis should raise suspicion
for the diagnosis. Urinalysis shows typical hexagonal crystals. The urinary cyanide-nitroprusside test is used as a qualitative screening procedure.
Renal,
Urinary
Systems &
Membranous nephropathy is a common cause of nephrotic syndrome (edema, proteinuria, and hypoalbuminemia) in adolescents and adults. Active hepatitis B infection is an important risk factor, and
vaccination reduces this risk.
Electrolytes
Renal,
Urinary
Systems &
Electrolytes
Severe vesicoureteral reflux can cause recurrent or chronic pyelonephritis. Complications include parenchymal scarring, hypertension, and renal insufficiency. Definitive diagnosis is made by voiding
cystourethrogram.
Renal,
Urinary
Systems &
Electrolytes
Children age < 2 years with a first febrile urinary tract infection (UTI) should receive 1-2 weeks of antibiotics and a renal and bladder ultrasound to evaluate for abnormalities that may lead to recurrent UTIs.
Renal,
Urinary
Systems &
Electrolytes
Vesicoureteral reflux is a risk factor for recurrent urinary tract infections and, if untreated, can lead to renal scar formation, hypertension, and chronic renal insufficiency. Scarring is focal due to chronic
interstitial inflammation and fibrosis.
Renal,
Urinary
Systems &
Electrolytes
Wilms tumor is the most common renal malignancy in children. Although it usually presents as an asymptomatic abdominal mass, hematuria may occur in up to one-fourth of patients. Abdominal pain and
hypertension may also be present.
Renal,
Urinary
Systems &
Electrolytes
Enuresis in the setting of polyuria, polydipsia, and weight loss is suggestive of new-onset type 1 diabetes mellitus.
Renal,
Urinary
Systems &
Electrolytes
Pyloric stenosis presents at age 3-5 weeks with nonbilious, projectile vomiting after each feed. Protracted vomiting produces a hypochloremic, hypokalemic metabolic alkalosis.
Renal,
Urinary
Systems &
Electrolytes
Desmopressin is the first-line pharmacotherapy for nocturnal enuresis. It can provide immediate improvement when behavioral modifications and alarm therapy have failed. When used as monotherapy, it
has a high rate of relapse on discontinuation of therapy.
Renal,
Urinary
Systems &
Electrolytes
Wilms tumor (nephroblastoma) is the most common renal malignancy in children. It typically presents with an asymptomatic unilateral abdominal mass.
Renal,
Urinary
Systems &
Electrolytes
Acute poststreptococcal glomerulonephritis occurs 1-4 weeks after group A streptococcal pharyngitis or impetigo. Patients may be asymptomatic or have hematuria, hypertension, and edema. Complement
component C3 is low.
Renal,
Urinary
Systems &
Electrolytes
Transient proteinuria is a common cause of isolated proteinuria in children and is often triggered by fever, stress, exercise, or hypovolemia. Confirmation of the diagnosis includes a normal first morning
urine protein/creatinine ratio and normal repeat urinalysis once the provoking factor is removed.
Renal,
Urinary
Systems &
Electrolytes
Alport syndrome is a progressive disease that presents with recurrent hematuria in boys age < 10, often with a family history of renal failure and/or hearing loss. Complement levels are normal, and renal
biopsy shows longitudinal splitting of the glomerular basement membrane.
Renal,
Urinary
Systems &
Chronic constipation is a risk factor for recurrent cystitis in toddlers. Impacted stool can cause rectal distension, which in turn compresses the bladder, prevents complete voiding, and leads to urinary stasis.
Electrolytes
Pulmonary
& Critical
Care
Apnea of prematurity is caused by immature central respiratory centers and presents with respiratory pauses, often with bradycardia and desaturation. Treatment involves noninvasive ventilation and
caffeine.
Pulmonary
& Critical
Care
Patients who are asymptomatic after nonfatal drowning should undergo prolonged (i.e. > 8 hr) observation due to the risk of delayed pulmonary complications.
Pulmonary
& Critical
Care
Hypoxic-ischemic brain injury (e.g. drowning) can lead to widespread neuronal cell death, cerebral edema, and increased intracranial pressure (ICP). Severely increased ICP can cause Cushing triad,
characterized by hypertension, bradycardia, and irregular respirations.
Pulmonary
& Critical
Care
Neonatal respiratory distress syndrome, seen in premature neonates with surfactant deficiency, causes increased work of breathing and hypoxemia. Atelectasis and diffuse alveolar collapse are seen on
chest x-ray as a reticulogranular pattern (i.e. ground-glass appearance) with air bronchograms.
Pulmonary
& Critical
Care
Bronchopulmonary dysplasia is a chronic complication of prematurity caused by the arrest of pulmonary development and characterized by a prolonged oxygen requirement. Histologic findings include a
decreased number and septation of alveoli.
Pulmonary
& Critical
Care
Necrotizing enterocolitis should be suspected in an enterally fed, premature or very-low-birth-weight infant with nonspecific apnea, lethargy, and abdominal distension. Pneumatosis intestinalis on abdominal
x-ray is diagnostic.
Pulmonary
& Critical
Care
Patients with structural airway disease, especially cystic fibrosis and asthma, are susceptible to allergic bronchopulmonary aspergillosis (ABPA). Allergic sensitization to Aspergillus spores is signified by
high levels of circulating IgE. ABPA must be suspected when there is unexplained lung function decline or persistent lower respiratory infection symptoms despite adequate antibiotic therapy.
Pulmonary
& Critical
Care
Viral bronchiolitis typically presents in children age < 2 years with cough and increased work of breathing (e.g. tachypnea, retractions). Diagnosis is typically clinical, but chest x-ray findings include
peribronchial cuffing, increased interstitial markings, and the absence of focal consolidation.
Pulmonary
& Critical
Care
Obstructive sleep apnea in children can present with secondary enuresis. Severe cases can result in cardiovascular complications.
Pulmonary
& Critical
Care
Transfusion-associated circulatory overload can occur when a large volume of blood product is rapidly transfused, particularly in children age < 3 with chronic anemia. Signs include respiratory distress,
hypertension, tachycardia, and pulmonary edema within 6 hours of transfusion initiation. Management include diuresis (e.g. furosemide).
Pulmonary
& Critical
Care
The risk of pneumothorax is increased in premature neonates, particularly those with respiratory distress syndrome who are receiving mechanical ventilation. Transillumination reveals increased brightness
on the affected side. Hemodynamic instability or signs of tension pneumothorax (e.g. mediastinal shift) warrant emergency needle thoracostomy.
Pulmonary
& Critical
Care
Congenital diaphragmatic hernia results in herniation of abdominal contents into the thoracic cavity. Patients have respiratory distress at birth with absent breath sounds on the affected side, a barrel-shaped
chest, and a scaphoid abdomen. Chest x-ray shows intrathoracic bowel loops and a displaced cardiac silhouette.
Pulmonary
& Critical
Care
Foreign body aspiration should be considered in a patient with persistent cough or wheezing following a choking episode. X-ray may reveal classic findings of unilateral lung hyperinflation and mediastinal
shift; however, x-ray findings also may be normal, and bronchoscopy is indicated if clinical suspicion remains high.
Pulmonary
& Critical
Care
Croup is a viral infection in which edema and narrowing of the proximal trachea result in a barky cough and inspiratory stridor. Treatment with corticosteroids with or without nebulized epinephrine decreases
airway inflammation.
Pulmonary
& Critical
Nighttime snoring and gasping for air is suspicious for obstructive sleep apnea, which is commonly caused by adenotonsillar hypertrophy in children.
Care
Pulmonary
& Critical
Care
Transient tachypnea of the newborn is a self-limited condition caused by delayed resorption and clearance of pulmonary fluid and is more common in infants delivered by cesarean section. Infants present
shortly after birth with respiratory distress and fluid in the interlobar fissures on chest x-ray.
Pulmonary
& Critical
Care
Drowning is defined as respiratory impairment after submersion in liquid. Aspirated liquid causes hypoxemia and can wash out pulmonary surfactant, leading to insidious onset of acute respiratory distress
syndrome.
Pulmonary
& Critical
Care
Bronchopulmonary dysplasia (chronic lung disease of the neonate), which causes a persistent oxygen requirement, is commonly seen in premature infants, especially in those requiring prolonged
mechanical ventilation or oxygen supplementation.
Pulmonary
& Critical
Care
Parapneumonic effusions occur after bacterial pneumonias lead to pleural inflammation and exudation of fluid into the pleural space. Small effusions in children without respiratory distress can be managed
with oral antibiotics and close outpatient follow-up. Moderate or large effusions require drainage.
Pulmonary
& Critical
Care
Empyemas occur after bacterial pneumonia leads to bacterial colonization of pleural fluid. Key pleural fluid findings include pH < 7.2, glucose < 60 mg/dL, neutrophil-predominant leukocyte counts >
50,000/mm3, and Gram stain/culture positive for bacteria.
Pulmonary
& Critical
Care
Chylothorax is an exudative effusion due to disruption of lymphatic flow within the thoracic duct. Pleural fluid analysis demonstrates milky-white fluid with elevated triglycerides.
Pulmonary
& Critical
Care
Respiratory distress syndrome is caused by surfactant deficiency. Important risk factors include prematurity and maternal diabetes mellitus.
Pulmonary
& Critical
Care
A large thymic silhouette is a normal finding on frontal chest x-ray in children age < 3 years due to its relatively large size compared to the young child’s thorax. Opacities in this location in other children
should raise concern for pneumonia or malignancy, depending on the clinical context.
Pulmonary
& Critical
Care
Staphylococcus aureus is the most common cause of bacterial pneumonia in young children with cystic fibrosis, especially in those with coexisting influenza infection. For patients with severe pneumonia,
frequent hospitalizations, or recurrent skin infections, intravenous vancomycin should be included for empiric therapy against methicillin-resistant S. aureus.
Pulmonary
& Critical
Care
Kartagener syndrome, a subgroup of primary ciliary dyskinesia, is characterized by a classic triad of situs inversus, recurrent sinusitis, and bronchiectasis.
Pulmonary
& Critical
Care
Bronchiolitis is most commonly caused by respiratory syncytial virus and manifests as upper respiratory symptoms, wheezing/crackles, and respiratory distress. Neonates are especially vulnerable to
complications such as apnea and respiratory failure.
Pulmonary
& Critical
Care
Not all patients with cystic fibrosis are identified through newborn screening. Therefore, the presence of nasal polyps, recurrent sinopulmonary infections, digital clubbing, and signs of pancreatic
insufficiency (e.g. poor growth, deficiency of fat-soluble vitamins) should prompt an evaluation.
Pulmonary
& Critical
Care
Endotracheal intubation and mechanical ventilation are indicated in patients with severe asthma unresponsive to maximal medical therapy and who have signs of impending respiratory arrest. Signs of
respiratory failure include altered mental status, minimal aeration, hypercarbia, and worsening hypoxemia.
Pulmonary
& Critical
Care
Severe coughing paroxysms can increase intra-alveolar pressure and cause air to leak into subcutaneous tissues (i.e. subcutaneous emphysema), resulting in spontaneous pneumomediastinum. The first
step in management is chest x-ray to confirm the diagnosis and rule out pneumothorax.
Pulmonary
& Critical
Epiglottitis presents with acute onset of respiratory distress (e.g. stridor, tripod positioning), dysphagia, and drooling. First-line management of patients with impending respiratory failure is endotracheal
intubation in a controlled setting.
Care
Pulmonary
& Critical
Care
Respiratory distress syndrome should be suspected when a premature infant presents with grunting, flaring, and retractions immediately after birth. Chest x-ray includes characteristic fine reticular
granularity of the lungs. Treatment includes early continuous positive air pressure ventilation.
Pulmonary
& Critical
Care
Sudden-onset respiratory distress with unilateral hyperinflation and mediastinal shift on x-ray are concerning for foreign body aspiration. Rigid bronchoscopy can identify and remove the aspirated object.
Pulmonary
& Critical
Care
The first step in management of a newborn with suspected congenital diaphragmatic hernia (CDH) is endotracheal intubation. A gastric tube should also be placed immediately to decompress the stomach
and bowel. Bag-and-mask ventilation can exacerbate respiratory decline and should be avoided.
Pulmonary
& Critical
Care
Croup, a viral infection that causes subglottic edema and narrowing, presents with barky cough and inspiratory stridor. Patients with stridor at rest are treated with corticosteroids and nebulized epinephrine.
Psychiatric/
Behavioral
&
Substance
Abuse
Physicians are in a unique position to answer adolescents’ questions about sexuality. Keys to promoting open discussion include providing a private setting, assuring confidentiality, normalizing discussions
of sex, removing stigma and discomfort by being nonjudgmental, and avoiding assumptions by using open-ended and gender-neutral questions.
Psychiatric/
Behavioral
&
Substance
Abuse
In children and adolescents with depression, considerations for inpatient treatment include suicidal ideation, poor psychosocial support, and lack of psychiatric follow-up. Any child who has possible thoughts
of suicide must undergo emergency assessment for safety.
Psychiatric/
Behavioral
&
Substance
Abuse
Pediatric major depression may present with irritability rather than depressed mood. If a patient displays irritability along with social withdrawal and academic decline, major depression should be considered.
Psychiatric/
Behavioral
&
Substance
Abuse
First-line treatment for attention deficit hyperactivity disorder in school-age children is with stimulant medications (e.g. methylphenidate, amphetamines) due to their efficacy, safety, and tolerability.
Psychiatric/
Behavioral
&
Substance
Abuse
A specific learning disorder (difficulties with key academic skills: reading, writing, and math) should be considered a diagnostic possibility in any school-aged child with academic, behavioral, or social
difficulties at school. Early intervention can be helpful in improving self-esteem, social skills, and preventing further academic decline.
Psychiatric/
Behavioral
&
Substance
Abuse
Impaired development of joint attention is a key feature of autism spectrum disorder in young children. Other possible features include the preference for solitary play, lack of eye contact, and poor responseto-name when called.
Psychiatric/
Behavioral
&
Substance
Abuse
The nonstimulant atomoxetine is an appropriate treatment for child and adolescent attention deficit hyperactivity disorder when parents prefer a nonstimulant medication.
Psychiatric/
Behavioral
&
Substance
Abuse
Stranger anxiety is a normal part of development characterized by crying when an unfamiliar person approaches. It typically peaks at age 8-9 months and resolves by age 2 years.
Psychiatric/
Behavioral
&
Substance
Abuse
Rett syndrome occurs mainly in girls and is characterized by loss of speech and purposeful hand use, gait disturbance, stereotypical hand movements, and head growth deceleration after a period of normal
development. Seizures are common and increase in prevalence with age.
Psychiatric/
Behavioral
&
Substance
Abuse
Language disorder is common and characterized by persistent difficulties in the acquisition and use of language due to deficits in comprehension and/or production. Typical signs include limited vocabulary,
sentence structure and functional use of language.
Psychiatric/
Behavioral
&
Substance
Abuse
Early childhood abuse or neglect can result in disrupted attachment to caregivers and difficulty forming healthy relationships. Reactive attachment disorder is characterized by a pattern of emotional and
social withdrawal as well as a lack of positive response to attempts to comfort.
Psychiatric/
Behavioral
&
Substance
Abuse
New-onset psychosis in an adolescent with neurologic dysfunction (e.g. tremor, parkinsonism) raises concern for Wilson disease. Pathogenesis involves defective hepatocellular copper transport, leading to
copper accumulation in the liver and basal ganglia.
Psychiatric/
Behavioral
&
Substance
Abuse
Suicide is a leading cause of death in adolescents and often involves firearms. Males with mood disorders and impulsivity are at increased risk. Removing firearms from the home, or locking unloaded
firearms and ammunition in separate containers, decreases the risk of suicide.
Psychiatric/
Behavioral
&
Substance
Abuse
First-line treatment of pediatric obsessive-compulsive disorder includes selective serotonin reuptake inhibitors and/or cognitive-behavioral psychotherapy.
Psychiatric/
Behavioral
&
Substance
Abuse
It is normal for curious young children to touch their own or other young children’s genitals, undress themselves or others, and make masturbatory movements. These behaviors are typically brief,
intermittent, and distractible. Age-inappropriate knowledge or simulation of sexual acts, however, should raise concern for possible abuse.
Psychiatric/
Behavioral
&
Substance
Abuse
Normal creative and healthy behaviors for young children include imaginary friends, pretend play, and storytelling with fanciful details.
Psychiatric/
Behavioral
&
Substance
Abuse
Neonatal abstinence syndrome is caused by infant withdrawal to opiates and usually presents in the first few days of life. It is characterized by irritability, a high-pitched cry, poor sleeping, tremors, seizures,
sweating, sneezing, tachypnea, poor feeding, vomiting, and diarrhea.
Psychiatric/
Behavioral
&
Substance
Abuse
The diagnosis of attention deficit hyperactivity disorder is based on clinical evaluation of symptoms and associated impairment in 2 different settings. Teacher evaluations are an important tool for assessing
behavior in the school environment.
Psychiatric/
Behavioral
&
Substance
Abuse
Patients with Tourette syndrome have high rates of psychiatric comorbidity, with a significantly increased risk for attention deficit hyperactivity disorder and/or obsessive-compulsive disorder.
Psychiatric/
Behavioral
&
Substance
Abuse
Pyromania is characterized by intentional and repeated fire setting with no obvious motive. Patients have a fascination with fire and deliberately start fires to reduce tension and feel pleasure or relief.
Psychiatric/
Behavioral
&
Substance
Abuse
Trichotillomania is a behavioral disorder characterized by recurrent hair pulling. It results in irregular patches of hair loss with broken hair shafts of differing lengths.
Psychiatric/
Behavioral
&
Substance
Abuse
Children with selective mutism are verbal at home but refuse to speak in specific social settings, commonly at school. It is considered an anxiety disorder and should be treated early to prevent long-term
educational and social impairment.
Psychiatric/
Behavioral
&
Substance
Abuse
Autism spectrum disorder is characterized by abnormal social development and extreme behavior rigidity, with onset in early development. Higher-functioning individuals with normal language and
intellectual ability may be diagnosed later, when deficits become more apparent with increased social demands.
Psychiatric/
Behavioral
&
Substance
Abuse
Treatment options for Tourette disorder include habit reversal training, antidopaminergic agents, and α2-adrenergic receptor agonists.
Psychiatric/
Behavioral
&
Substance
Abuse
Children with impaired social communication, restricted interests, and repetitive behaviors require assessment for autism spectrum disorder. Variable degrees of language and intellectual impairment may be
present.
Psychiatric/
Behavioral
&
Substance
Abuse
Autism spectrum disorder should be suspected in children with impaired social interactions, restricted interests, or repetitive behaviors. When parents have differing levels of concern, physicians should take
a sensitive approach that considers both parents’ views, educates them about the spectrum of developmental disorders, and encourages further evaluation.
Psychiatric/
Behavioral
&
Substance
Abuse
A diagnosis of attention deficit hyperactivity disorder (ADHD) should be considered in children with symptoms of inattention, impulsivity, and hyperactivity in 2 or more settings. In addition to academic
difficulty, ADHD often results in impaired family and peer relationships.
Pregnancy,
Childbirth &
Puerperium
Fetal growth restriction (FGR) is characterized by estimated fetal weight < 10th percentile or birth weight < 3rd percentile. Asymmetric FGR, in which head circumference is normal, is most commonly due to
uteroplacental insufficiency (e.g. maternal chronic hypertension) in the second/third trimester.
Pregnancy,
Childbirth &
Puerperium
Metabolic complications of infants of diabetic mothers include hypoglycemia, hypocalcemia, and hypomagnesemia. Serum calcium level should be obtained for symptomatic neonates (e.g. jitteriness),
particularly if serum glucose is normal.
Pregnancy,
Childbirth &
Puerperium
Neonatal herpes simplex virus infection typically results from vertical transmission during delivery. The presentation in newborns with CNS disease (i.e. encephalitis) typically occurs in weeks 2-3 of life with
seizure and temporal lobe hemorrhage.
Pregnancy,
Childbirth &
Puerperium
Small for gestational age infants have a weight under the 10th percentile for gestational age at birth and may have complications such as hypoxia, polycythemia, hypoglycemia, hypothermia, and
hypocalcemia.
Pregnancy,
Childbirth &
Puerperium
Excessive maternal hyperglycemia causes fetal hyperglycemia and hyperinsulinemia. Neonates may be macrosomic, increasing the risk of shoulder dystocia and its complications (e.g. brachial nerve palsy,
clavicle fracture).
Pregnancy,
Childbirth &
Puerperium
Immediate routine neonatal resuscitation includes drying, stimulating, and warming. Healthy newborns should be placed on the mother’s chest for skin-to-skin care, which provides warmth and allows early
breastfeeding initiation.
Pregnancy,
Childbirth &
Puerperium
Fetal hydantoin syndrome results from in utero exposure to an antiepileptic (e.g. phenytoin, carbamazepine) and presents with microcephaly, a wide anterior fontanelle, cleft lip and palate, and distal
phalangeal hypoplasia.
Pregnancy,
Childbirth &
Puerperium
Birth weight > 4 kg, shoulder dystocia, and vacuum delivery are risk factors for neonatal clavicular fractures. Management includes reassurance and gentle handling, as most neonatal clavicular fractures
heal rapidly without complications.
Poisoning
&
Environme
ntal
Exposure
Many common medications (e.g. cyclopentolate eye drops) can cause anticholinergic toxicity, especially in children or the elderly. Physostigmine, a reversible acetylcholinesterase inhibitor, may be
considered to treat severe anticholinergic toxicity.
Poisoning
&
Environme
ntal
Exposure
Drowned patients often require respiratory support to correct hypoxia. In patients who are unable to protect their airway or who are hypoxic despite supplemental oxygen, intubation with mechanical
ventilation should be performed.
Poisoning
&
Environme
ntal
Exposure
Patients with stings from Hymenoptera species can develop exaggerated local allergic responses called large local reactions, characterized by swelling, erythema, and warmth (up to ~10 cm in size)
contiguous with the site of the sting.
Poisoning
&
Environme
ntal
Exposure
Heat exhaustion is characterized by hyperthermia (typically < 40 C (104 F)) associated with weakness, dizziness, profuse sweating, headache, and/or nausea. Mentation remains normal, unlike in exertional
heat stroke. Management includes cooling (e.g. cool water shower) and oral hydration with salt-containing fluids.
Poisoning
&
Environme
ntal
The most effective way to prevent children from drowning in swimming pools is to install a 4-sided fence around the pool with a self-closing gate and latch. A reliable supervising adult should be present and
paying constant attention to children during any water activity.
Exposure
Poisoning
&
Environme
ntal
Exposure
Infant botulism occurs in children age < 1 after exposure (e.g. ingestion of honey) to Clostridium botulinum spores. Impaired acetylcholine release into the neuromuscular junction causes constipation,
irritability, oculobulbar weakness (e.g. absent gag reflex, ptosis), hyporeflexia, progressive hypotonia, and eventual paralysis.
Poisoning
&
Environme
ntal
Exposure
Patients with acquired symptomatic methemoglobinemia or high levels of methemoglobin can be treated with methylene blue or high-dose ascorbic acid.
Poisoning
&
Environme
ntal
Exposure
Methemoglobinemia presents with cyanosis after exposure to an oxidizing agent (e.g. dapsone, nitrites, anesthetics). Pulse oximetry saturation is typically low and does not improve with the administration of
oxygen; however, PaO2 is normal.
Poisoning
&
Environme
ntal
Exposure
Targeted screening for elevated blood lead levels should be performed in children with risk factors (e.g. home built before 1978). Due to the potential of falsely elevated results with capillary testing, repeat
testing by venous blood draw should be performed to verify a high blood lead level.
Poisoning
&
Environme
ntal
Exposure
Patients with acute iron poisoning have abdominal pain, diarrhea, and hematemesis; in addition, they may develop hypovolemic shock within a few hours due to gastrointestinal losses. Laboratory evaluation
reveals an anion gap metabolic acidosis, and x-ray may show radiopaque tablets.
Poisoning
&
Environme
ntal
Exposure
Organophosphates are acetylcholinesterase inhibitors that are primarily used as agricultural pesticides. Toxicity is characterized by signs of cholinergic excess (e.g. miosis, bronchospasm, muscle
fasciculations/weakness, diarrhea, vomiting, lacrimation) and can rapidly lead to respiratory failure. Management includes decontamination (removal of clothes, irrigation of skin) to prevent cutaneous
absorption and treatment with atropine followed by pralidoxime.
Poisoning
&
Environme
ntal
Exposure
Acute iron poisoning can occur after accidental ingestion of prenatal vitamins and presents with abdominal pain, hematemesis, shock, and anion gap metabolic acidosis. Deferoxamine is the primary
therapy.
Poisoning
&
Environme
ntal
Exposure
The first step in managing caustic ingestion is assessing airway, breathing, and circulation. Contaminated clothing should be removed promptly. Upper gastrointestinal endoscopy is the diagnostic study of
choice to evaluate the extent of injury. Attempting to neutralize the alkali with vinegar or lavage is dangerous as these interventions may trigger vomiting, which may cause further mucosal damage.
Ophthalmol
ogy
Optic nerve injuries (e.g. contusion, avulsion) may occur indirectly following head trauma due to shearing forces on the optic canal. Patients have an acute decrease in visual acuity and a relative afferent
pupillary defect in the injured eye.
Ophthalmol
ogy
Lens dislocation typically occurs after blunt trauma to the eye. However, ectopia lentis following minimal or no trauma should prompt evaluation for Marfan syndrome, including echocardiography to detect
associated aortic root disease.
Ophthalmol
ogy
Orbital compartment syndrome causes eye pain and vision loss due to rapidly increased intraorbital pressure from trauma. Examination shows a tight orbit (e.g. periorbital swelling, hard eyelid, proptosis)
and an afferent pupillary defect. Management is immediate surgical decompression to prevent permanent vision loss.
Ophthalmol
ogy
Photokeratitis is an acute corneal injury due to ultraviolet (UV) light exposure in the absence of UV-protective eyewear. Patients generally seek medical attention 6-12 hours after exposure for severe,
bilateral eye pain and photophobia. Punctate staining of the corneas using fluorescein dye is characteristic.
Ophthalmol
ogy
Myopia, or nearsightedness, is characterized by increased anterior-posterior diameter of the eye, causing blurred distance vision. High myopia (> 6 diopters of correction) increases the risk of retinal
detachment and macular degeneration.
Ophthalmol
ogy
Congenital nasolacrimal duct obstruction is typically due to incomplete canalization of the distal duct, resulting in blockage of normal tear flow. Infants have increased tearing and crusting of the eyelashes
but clear conjunctivae. Initial management involves lacrimal sac massage several times daily to open the duct.
Ophthalmol
ogy
Strabismus (ocular misalignment) presents with eye deviation, asymmetric corneal light and red reflexes, and an abnormal cover test. Dilated funduscopic examination is performed to detect retinoblastoma,
a life-threatening cause of strabismus.
Ophthalmol
ogy
Amblyopia is a functional reduction in the visual acuity of one or both eyes and is caused by disturbances in binocular vision during early childhood. Because of compensation from the normal eye,
amblyopia from an uncorrected refractive error may not present until the normal eye is occluded.
Ophthalmol
ogy
Allergic conjunctivitis is an IgE-mediated hypersensitivity to environmental allergens and presents with ocular pruritus, bilateral conjunctivitis, and clear discharge. Treatment includes allergen avoidance and
topical therapy (e.g. antihistamines, mast cell stabilizers).
Ophthalmol
ogy
Symptoms of orbital cellulitis include proptosis, ophthalmoplegia, and visual changes. Bacterial sinusitis is the most common predisposing factor for orbital cellulitis.
Ophthalmol
ogy
Vision is evaluated at every well-child visit, as early detection of eye abnormalities can prevent long-term vision loss. Formal visual acuity testing is recommended starting at age 4 as well as in cooperative
3-year-olds.
Ophthalmol
ogy
Neurofibromatosis type 1 is a genetic disorder that causes café-au-lait macules, freckling in skinfolds, Lisch nodules, and neurofibromas. Approximately 15% of children with this disorder develop optic
pathway gliomas, which often manifest with unilateral vision loss, proptosis, esotropia, and optic disc pallor.
Ophthalmol
ogy
Chlamydial conjunctivitis typically presents at age 5-14 days with mild eyelid swelling, chemosis, and watery or mucopurulent discharge. Affected infants should receive oral macrolide therapy (e.g.
azithromycin) because topical treatments are not effective.
Ophthalmol
ogy
Strabismus, or ocular misalignment, can be detected by asymmetric red and corneal light reflexes as well as eye deviation on cover test. Management includes correction of refractive errors and
strengthening the affected eye by patching or applying drops to blur vision in the normal eye. Without treatment, strabismus can lead to amblyopia, a functional reduction in visual acuity of the deviated eye.
Ophthalmol
ogy
Leukocoria, or white pupillary reflex, in an infant or young child should prompt immediate referral to an ophthalmologist to evaluate for retinoblastoma. Strabismus and nystagmus are other red flags.
Ophthalmol
ogy
Gonococcal conjunctivitis presents in the first 2-5 days of life with eyelid swelling, copious and purulent eye drainage, and conjunctival injection, causing blindness if untreated. Prevention is achieved by the
application of a topical erythromycin ointment soon after birth.
Ophthalmol
ogy
Trachoma is due to infection with Chlamydia trachomatis serotypes A, B, and C. Acute trachoma presents with follicular conjunctivitis and inflammation. Repeated or chronic infection causes inversion of the
eyelashes and scarring of the cornea.
Nervous
System
Bilirubin-induced neurologic dysfunction is due to extreme unconjugated bilirubinemia in which unbound bilirubin crosses the blood-brain barrier. Chronic disease (i.e. kernicterus) results in hyperkinetic
movements (e.g. chorea, dystonia), sensorineural hearing loss, and gaze abnormalities.
Nervous
System
Chronic back pain associated with neurologic deficits (e.g. hyporeflexia, weakness) and a gross lumbosacral abnormality (e.g. lipoma) should raise concern for tethered spinal cord with underlying spinal
dysraphism.
Nervous
System
Sydenham chorea is an autoimmune complication of group A Streptococcus infection caused by molecular mimicry, in which antistreptococcal antibodies cross-react with neuronal antigens in the basal
ganglia. Neuropsychiatric manifestations include chorea, milkmaid grip, hypotonia, emotional lability, and obsessive-compulsive behaviors.
Nervous
System
Apnea of prematurity is caused by immature respiratory centers in the pons and medulla and affects virtually all preterm infants < 28 weeks gestation. Diagnosis is clinical, and no additional testing is
required in a well-appearing infant with a classic presentation in the first few days of life.
Nervous
Abusive head trauma should be suspected in an infant with nonspecific vomiting and an acute, unexplained change in behavior, even in the absence of a trauma history. Evaluation includes CT scan of the
System
head to detect subdural hemorrhage.
Nervous
System
Athletes with possible cervical spine injury should have their cervical spine motion restricted (e.g. log roll technique, application of a rigid cervical collar) until injury is ruled out clinically or radiographically.
Nervous
System
Retinitis pigmentosa is a genetic condition resulting in progressive degeneration of the retina. Patients have progressive night blindness and peripheral vision loss. Funduscopic examination may show
retinal pigment deposition in addition to retinal vessel attenuation and optic disc pallor.
Nervous
System
Migraines are classically episodic, unilateral, throbbing headaches commonly triggered by stress, fasting, and/or dehydration. Acute management includes simple analgesia (e.g. acetaminophen) and a
triptan (e.g. sumatriptan) in refractory cases.
Nervous
System
Classic migraine presents with a unilateral and pulsatile headache, phonophobia, photophobia, nausea, and/or vomiting. Common triggers include sleep deprivation and menses. Imaging and laboratory
evaluation are not warranted for patients with classic symptoms and a normal neurologic examination.
Nervous
System
Migraines in young children often present with bilateral, throbbing headache, in addition to photophobia, phonophobia, nausea, or vomiting. In contrast to adults, children commonly have associated
autonomic symptoms (e.g. tearing, nasal congestion).
Nervous
System
Neonatal abstinence syndrome is caused by withdrawal from in utero exposure to opioids. Presentation can include irritability, tremors, hypertonia, and difficulty feeding. Urine drug screening can confirm
the diagnosis, and treatment is focused on nonpharmacologic measures to reduce hypersensitivity with or without opioid therapy.
Nervous
System
Microcephaly refers to head circumference > 2 standard deviations below the mean (i.e. < 2nd percentile). In a child with normal development and an otherwise normal examination, the next step is to
measure parental head circumferences to assess for benign familial microcephaly.
Nervous
System
Tuberous sclerosis complex is an inherited neurocutaneous disorder characterized by benign hamartomas of various organs. Epilepsy is a frequent finding that often begins in infancy but can manifest later
in life. Other characteristic features include periungual fibromas and subependymal nodules.
Nervous
System
Glaucoma in infants typically presents with tearing, photophobia, blepharospasm, and an enlarged cornea and globe. Patients with Sturge-Weber syndrome are at increased risk due to a congenital anterior
chamber angle anomaly. Evaluation of glaucoma includes tonometry to measure intraocular pressure.
Nervous
System
Von Hippel-Lindau disease, an autosomal dominant condition caused by a mutation of a tumor suppressor gene, leads to various neoplasms, including CNS and retinal hemangioblastomas,
pheochromocytomas, and renal cell carcinomas.
Nervous
System
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder characterized by distinct skin features and benign tumor formation, including subependymal giant cell tumors in the
brain and cardiac rhabdomyomas. TSC should be suspected in infants with infantile spasms and ash-leaf spots.
Nervous
System
Myelomeningocele is an open neural tube defect in which the meninges and spinal cord protrude through the skin. It is often associated with a Chiari II malformation (i.e. inferior displacement of the medulla
and cerebellum through the foramen magnum), as well as obstructive hydrocephalus.
Nervous
System
Macrocephaly is a head circumference > 97th percentile. The condition is most likely benign (e.g. familial) in a patient with normal development and normal examination (e.g. no syndromic features, no signs
of increased intracranial pressure). Management is reassurance and observation.
Nervous
System
Hydrocephalus (excess cerebrospinal fluid) causes ventricular dilation and increased intracranial pressure. Children may have a rapidly enlarging head circumference, behavior changes, and developmental
delay. In patients whose anterior fontanelle has closed, headache, vomiting, hypertension, and papilledema may occur.
Nervous
System
A cephalohematoma is a collection of blood between the skull and periosteum caused by the rupture of subperiosteal vessels during delivery. Examination reveals a firm, nonfluctuant scalp swelling that
does not cross suture lines. Management is with reassurance and observation because most cephalohematomas resolve without intervention.
Nervous
System
The classic triad of herpes zoster oticus (i.e. Ramsay Hunt syndrome) includes severe ear pain, ipsilateral facial paralysis, and a vesicular rash in the external auditory canal.
Nervous
System
Preterm newborns are at increased risk of developing intraventricular hemorrhage (IVH) due to the presence of the germinal matrix, a fragile, highly vascularized area in the brain. Because IVH can be
asymptomatic, all preterm neonates born at < 32 weeks gestation require screening head ultrasound.
Nervous
Hemorrhagic stroke presents with sudden headache, focal neurologic deficits, and altered mental status. Risk factors in children include vascular malformations (e.g. arteriovenous malformation (AVM)).
System
Head CT scan of a ruptured AVM typically shows an intraparenchymal bleed (i.e. hyperdense fluid collection with irregular margins).
Nervous
System
Post-concussion syndrome is characterized by prolonged (> 4 weeks) concussion symptoms (e.g. headache, sleep disturbance). Management is symptomatic care because most patients improve within 3
months.
Nervous
System
Concussion is caused by rapid rotational acceleration of the brain during head trauma. Diagnosis is based on clinical findings of neurologic disturbance (e.g. headache, noise sensitivity, emotional changes)
without evidence of structural intracranial injury. Treatment is physical and cognitive rest followed by a gradual return to activity.
Nervous
System
Concussion, or mild traumatic brain injury, is characterized by neurologic symptoms (e.g. headache, difficulty concentrating) without structural intracranial injury. Initial treatment is with cognitive and physical
rest for 24-48 hours, followed by a gradual return to play with slowly increasing physical intensity.
Nervous
System
Imaging should be avoided in children with minor head trauma and no high-risk features for intracranial injury (i.e. altered mental status, loss of consciousness, severe mechanism of injury, vomiting or
severe headache, signs of basilar skull fracture).
Nervous
System
Concussion is a form of mild traumatic brain injury resulting in transient impairment of normal neuronal function. Typical symptoms include headache, disorientation, dizziness, and/or amnesia associated
with abnormalities in coordination, speech, attention, or emotions.
Nervous
System
Seizure in the setting of fever is most commonly due to benign, febrile seizures in children age 6 months to 5 years. Infants age < 6 months should undergo lumbar puncture (LP) because they may lack
other typical findings of meningitis (e.g. nuchal rigidity). Additional features warranting LP include signs of increased intracranial pressure & prolonged altered mental status.
Nervous
System
Craniopharyngiomas are benign, slow-growing, calcified tumors within the suprasellar region. Tumor compression of the optic chiasm can result in bitemporal hemianopsia, and pituitary stalk compression
can cause panhypopituitarism (e.g. growth failure, pubertal delay).
Nervous
System
Choroid plexus papilloma is a benign intraventricular mass that causes increased production of cerebrospinal fluid, leading to ventriculomegaly and hydrocephalus. In infants, hydrocephalus presents with
enlarging head circumference and signs of increased intracranial pressure.
Nervous
System
Myotonic dystrophy is a multisystem genetic disorder with variable severity and phenotype that classically causes muscle weakness and myotonia. Sleep disturbances, including excessive daytime
sleepiness, are a common, yet often underrecognized, feature. The childhood phenotype (age of onset < 10) often presents with intellectual impairment and behavioral issues.
Nervous
System
Although idiopathic intracranial hypertension typically presents in obese women of childbearing age, it can also be seen in children who are not obese. Headaches may be less obvious, and vision
abnormalities (e.g. blurry vision, enlarged blind spot) are often predominant in the prepubertal population. Papilledema is the hallmark examination finding.
Nervous
System
Subgaleal hemorrhage is caused by the shearing of veins between the dural sinuses and scalp due to scalp traction during delivery. Blood accumulates between the periosteum and galea aponeurotica,
causing diffuse, fluctuant scalp swelling. Rapid hemorrhage expansion can lead to hypovolemic shock, disseminated intravascular coagulation, and death.
Nervous
System
Newborns who do not receive intramuscular vitamin K are at risk of vitamin K deficiency bleeding, which presents with easy bruising or bleeding, including intracranial hemorrhage (ICH). ICH can cause
obstructive hydrocephalus, leading to a bulging fontanelle, upward gaze impairment, and signs of increased intracranial pressure (e.g. irritability, vomiting, bradycardia, hypertension).
Nervous
System
Chiari I malformation is characterized by inferior displacement of the cerebellar tonsils through the foramen magnum, and syringomyelia is a commonly associated condition. Although frequently
asymptomatic, presentation may occur in adolescence/adulthood with occipital headache exacerbated by activity and Valsalva maneuvers.
Nervous
System
Tuberous sclerosis complex should be suspected in a patient with refractory epilepsy, developmental delay, intellectual disability, and characteristic skin findings (e.g. ash-leaf spots). Associated tumors
include subependymal nodules and cardiac rhabdomyomas.
Nervous
System
Pallid breath-holding spells are triggered by fear or pain from minor trauma and are characterized by pallor/diaphoresis with brief loss of consciousness that may be followed by sleepiness and confusion.
Diagnosis is clinical and requires no testing.
Nervous
System
In Rett syndrome, a period of normal development is followed by regression of speech, loss of purposeful hand use accompanied by stereotypical hand movements, and gait disturbance. Other features
include breathing abnormalities, autistic features, and seizures.
Nervous
System
Signs of increased intracranial pressure in young children include irritability, intractable vomiting, lethargy, and a bulging fontanelle. Urgent brain imaging is necessary to evaluate for ventriculomegaly, mass
effect, and impending herniation.
Nervous
Among patients with meningitis, a viral etiology is suggested when cerebrospinal fluid analysis reveals a mildly elevated white blood cell count and protein level and normal glucose concentration. Mumps
System
virus is capable of causing viral meningitis in unvaccinated individuals.
Nervous
System
Friedreich ataxia is an autosomal recessive, neurodegenerative disease that typically presents in adolescence with progressive ataxia, dysarthria, scoliosis, and cardiomyopathy. Loss of vibratory sense and
proprioception also occur due to degeneration of the dorsal spinal columns.
Nervous
System
Sydenham chorea, a sequela of group A Streptococcus (GAS) infection, is the primary cause of chorea (i.e. abnormal, jerky movements that disappear during sleep) in children. Hypotonia and behavioral
changes are commonly seen, and evaluation includes GAS testing with throat culture and antistreptolysin O and antideoxyribonuclease titers.
Nervous
System
Sensorineural hearing loss is the most common sequela of congenital cytomegalovirus (CMV). To reduce the risk of hearing loss, antiviral therapy should be given to neonates with symptomatic CMV (e.g.
hepatosplenomegaly, jaundice, periventricular calcifications).
Nervous
System
Posterior fossa tumors typically present with signs of cerebellar dysfunction (e.g. ataxia) and increased intracranial pressure (e.g. headache, vomiting, papilledema). In children, the most common posterior
fossa tumors are pilocytic astrocytoma and medulloblastoma.
Nervous
System
Normal development of an 18-month-old child includes a 10-25-word vocabulary, running, kicking, scribbling, and pretend play. The inability to walk or run independently by this age is a sign of gross motor
delay.
Nervous
System
Two-year-old children with appropriate language development should have a vocabulary of > 50 words, combine words into 2-word phrases, and follow 2-step commands. In addition, a stranger should be
able to understand at least half of a 2-year-old’s speech.
Nervous
System
Breath-holding spells are generally benign and characterized by a brief period of apnea and skin color change associated with an emotional trigger. Parents should be reassured that these spells are
typically harmless and children still develop normally.
Nervous
System
Increasing head circumference and signs of increased intracranial pressure in children should be evaluated with an imaging study such as a CT scan of the brain.
Nervous
System
Simple febrile seizures are typically benign and occur in children age 6 months to 5 years. They are generalized, last < 15 minutes, and do not recur within 24 hours. Diagnostic testing is unnecessary, and
management is with supportive care (e.g. antipyretics) and reassurance.
Nervous
System
Seizures are characterized by sudden loss of consciousness, loss of postural tone, and a postictal state with delayed return to baseline neurologic functioning. Tongue lacerations can occur with tonic-clonic
movements.
Nervous
System
Guillain-Barré syndrome most commonly presents with ascending weakness and areflexia, and can progress to involve respiratory and bulbar muscles. Serial pulmonary function testing (e.g. spirometry) of
forced vital capacity and negative inspiratory force is indicated to monitor for impending respiratory failure.
Nervous
System
Direct spread of bacteria from otitis media (OM) or mastoiditis can cause a temporal brain abscess. The presentation can include severe headache, morning vomiting, fever, and focal neurologic deficits.
Diagnosis is confirmed by visualization of a ring-enhancing lesion on CT scan or MRI of the brain.
Nervous
System
Todd paralysis is a transient, focal weakness or paralysis (e.g. hemiplegia) that occurs in the postictal period after a focal-onset (+/- secondary generalization) seizure. Symptoms are self-limited and usually
resolve within 36 hours.
Nervous
System
Posterior oropharyngeal injuries can result in internal carotid artery dissection or thrombus formation, which can present with hemiplegia, facial droop, and aphasia.
Nervous
System
Neurofibromatosis type 1 is a genetic condition associated with café-au-lait macules, axillary and inguinal freckling, Lisch nodules, and neurofibromas (peripheral nerve sheath tumors).
Nervous
System
Sudden infant death syndrome (SIDS) refers to the unexplained death of infants age < 1. SIDS risk is decreased with smoke avoidance, pacifier use, sleeping in the supine position with firm bedding, and
room-sharing without bed-sharing.
Nervous
System
Lesch-Nyhan syndrome is caused by a deficiency in hypoxanthine-guanine phosphoribosyltransferase. Neurologic findings begin with developmental delay and hypotonia in infancy and progress to chorea,
dystonia, and spasticity in early childhood. Cardinal findings include self-mutilation and gouty arthritis.
Nervous
System
Homocystinuria is an autosomal recessive disorder caused by cystathionine synthase deficiency. In addition to Marfanoid body habitus, patients with homocystinuria also have intellectual disability,
downward lens dislocation, and hypercoagulability. Treatment involves vitamin supplementation and antiplatelet or anticoagulation to prevent thromboembolic events.
Nervous
System
Migraine headaches are the most common cause of acute and recurrent headaches in the pediatric population. They typically present with unilateral or bifrontal pain; photophobia; phonophobia; nausea;
vomiting; and a visual, auditory, or linguistic aura. First-line treatment in children includes acetaminophen, nonsteroidal anti-inflammatory agents, and supportive management. Triptans may be tried if these
measures are not effective.
Nervous
System
Intraventricular hemorrhage is a common complication of prematurity and can present with acute neurologic changes (e.g. seizure, apnea), a bulging fontanelle, and a rapidly increasing head circumference.
Nervous
System
Parinaud syndrome occurs in most patients with pineal gland masses (pinealomas) and presents as limitation of upward gaze, bilateral eyelid retraction, and light-near dissociation. Pineal gland tumors can
also cause persistent headache and vomiting due to obstructive hydrocephalus.
Nervous
System
Guillain-Barré syndrome typically presents with ascending weakness and diminished/absent deep tendon reflexes following a recent gastrointestinal or respiratory infection. The pathogenesis of this
syndrome is the immune-mediated demyelination of peripheral nerve fibers.
Nervous
System
Myotonic dystrophy is an autosomal dominant disorder that presents in adolescence or early adulthood with grip myotonia (delayed muscle relaxation), progressive weakness (e.g. facial and hand muscles),
dysphagia, and cardiac conduction anomalies. Testicular atrophy/infertility can also occur.
Nervous
System
In children, low-grade astrocytomas are the most common type of central nervous system tumor. New-onset seizures may be the initial presentation of a tumor originating in the cerebral cortex.
Nervous
System
The primary risk factor for intraventricular hemorrhage is prematurity due to fragile germinal matrix vessels. Symptomatic newborns may have apnea, seizures, and a bulging fontanelle as well as signs of
acute blood loss (e.g. anemia, tachycardia). Cranial ultrasound is diagnostic.
Nervous
System
Diarrheal illness (e.g. Campylobacter jejuni infection) is the most frequent precipitant of Guillain-Barré syndrome (GBS), an acute demyelinating polyneuropathy characterized by ascending weakness and
hyporeflexia. Other common findings of GBS include paresthesia, neuropathic pain, and autonomic dysfunction.
Nervous
System
Patients with neurofibromatosis type 1 are at increased risk for optic pathway gliomas, which can present with headache and decreased visual acuity. MRI of the brain and orbits evaluates for an intracranial
mass.
Nervous
System
Abusive head trauma is the most common cause of death from child abuse. Repetitive acceleration-deceleration forces cause shearing of the subdural bridging veins and vitreoretinal traction, resulting in
subdural and retinal hemorrhages.
Nervous
System
Epidural hematoma occurs when blood accumulates between the cranium and dura mater after traumatic head injury. Patients classically have a brief loss of consciousness followed by a lucid interval.
Rapid hematoma expansion leads to elevated intracranial pressure (e.g. impaired consciousness, nausea/vomiting, headache) and uncal herniation (e.g. ipsilateral pupillary dilation, contralateral
hemiparesis).
Nervous
System
Head CT scan without contrast is indicated for minor head trauma with high-risk features for intracranial injury (i.e. altered mental status, loss of consciousness, severe mechanism of injury, vomiting or
severe headache, signs of basilar skull fracture). Observation for 4-6 hours may be an alternative option if mental status is normal and there are no signs of a basilar skull fracture.
Nervous
System
Galactosemia is a metabolic disorder in which deficient galactose-1-phosphate uridylyltransferase prevents the reduction of galactose to glucose. The disorder typically presents with jaundice, vomiting,
hepatomegaly, and possibly seizures (due to hypoglycemia) in the first few days of life. The diagnosis is supported by the presence of non-glucose reducing substances in urine, which suggests
galactosuria.
Nervous
System
Intracranial hypertension presents with headache, vision changes, papilledema, and/or abducens nerve (CN VI) palsy. Growth hormone, tetracyclines, and excessive vitamin A and its derivatives (e.g.
isotretinoin) can cause increased intracranial pressure. Withdrawal of these medications leads to symptom resolution.
Nervous
System
Sturge-Weber syndrome is a neurocutaneous disorder characterized by a capillary malformation (port-wine stain) along the trigeminal nerve distribution and leptomeningeal capillary-venous malformations
affecting the brain and eye. Seizures, intellectual disability, and visual field defects can occur.
Nervous
System
Seizure should be considered in any patient with an episode of sudden loss of consciousness followed by a postictal state of sleepiness and confusion. Other common findings include perioral cyanosis,
evidence of tongue biting, and urinary incontinence.
Nervous
Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder associated with café-au-lait macules and axillary and inguinal freckling. Patients with NF1 have an increased risk of
System
seizures, learning disabilities, and optic pathway gliomas.
Nervous
System
Cephalohematoma is a subperiosteal hemorrhage that presents in the first day of life with a firm, well-demarcated scalp swelling that does not cross suture lines. Forceps- or vacuum-assisted deliveries
increase the risk of developing cephalohematomas. Management is with observation because most resorb spontaneously.
Nervous
System
Infant botulism is caused by the ingestion of Clostridium botulinum spores, which colonize the gut and lead to production and release of a neurotoxin responsible for life-threatening, descending flaccid
paralysis. The diagnosis should be considered when a previously healthy infant presents with bulbar palsies, constipation, and hypotonia, even if the infant has not been fed honey. Human-derived botulism
immune globulin is the treatment of choice.
Nervous
System
Niemann-Pick disease type A is due to sphingomyelinase deficiency and presents at age 2-6 months with areflexia, hepatosplenomegaly, a ‘cherry-red’ macula, and developmental milestone regression.
Although Tay-Sachs disease presents in a similar manner, hepatosplenomegaly and areflexia are not seen.
Nervous
System
Fetal alcohol syndrome is one of the most common preventable causes of birth defects, behavioral problems, and cognitive impairment. The pathognomonic facial features are small palpebral fissures,
smooth philtrum, and thin vermilion border.
Nervous
System
Cerebral palsy is a non-progressive motor dysfunction with prematurity as the leading risk factor. The most common findings are delayed gross motor milestones in infancy and spasticity (e.g. hypertonia,
hyperreflexia).
Nervous
System
Hearing loss is a common sequela of Streptococcus pneumoniae meningitis due to inflammatory damage to the cochlea and/or labyrinth. Audiologic testing should be performed as soon as possible to
identify hearing loss and improve outcomes if hearing rehabilitation is needed.
Nervous
System
Fragile X syndrome, an X-linked disorder due to a trinucleotide repeat expansion in the FMR1 gene, is the most common cause of inherited intellectual disability. In addition to speech and motor delays,
findings include a long face, prominent forehead, protruding ears, and macro-orchidism.
Nervous
System
Friedreich ataxia is an autosomal recessive, neurodegenerative disease that typically presents in adolescence with progressive ataxia and loss of position and vibratory sense. Genetic testing reveals an
excessive number of trinucleotide repeat sequences.
Nervous
System
Focal seizures originate in a single cerebral hemisphere and can spread to involve both hemispheres, causing impairment of awareness (with or without automatisms) and inability to respond to external
stimuli. In contrast to absence seizures, focal seizures are associated with a postictal phase and are not provoked by hyperventilation.
Miscellane
ous
(Multisyste
m)
CHARGE syndrome (coloboma, heart defects, atresia choanae, retardation of growth/development, and genitourinary and ear abnormalities) is associated with defects in CHD7 and can be diagnosed
clinically in the newborn period.
Miscellane
ous
(Multisyste
m)
Short stature, amenorrhea, and aortic coarctation are features of Turner syndrome. Patients are at increased risk of osteoporotic fracture due to estrogen deficiency from ovarian dysgenesis.
Miscellane
ous
(Multisyste
m)
Characteristic features of Turner syndrome include webbed neck, horseshoe kidney, and nail dysplasia. Congenital lymphedema occurs due to dysgenesis of the lymphatic system and presents at birth with
non-pitting carpal and pedal edema.
Miscellane
ous
(Multisyste
m)
Sexually active women age < 25 are at increased risk of sexually transmitted infections and require annual screening for Chlamydia trachomatis and Neisseria gonorrhoeae.
Miscellane
ous
(Multisyste
m)
Friedreich ataxia is a neurodegenerative disorder that classically presents in adolescents with progressive ataxia and dysarthria. The most common cause of death is cardiac dysfunction (e.g. arrhythmia,
congestive heart failure) due to hypertrophic cardiomyopathy.
Miscellane
ous
Kallmann syndrome is a disorder of migration of fetal GnRH and olfactory neurons that results in delayed puberty (i.e. primary amenorrhea) and anosmia. Due to the lack of GnRH secretion, patients have
(Multisyste
m)
hypogonadotropic hypogonadism (low FSH). In these patients, karyotype (genotype) is consistent with phenotype.
Miscellane
ous
(Multisyste
m)
McCune-Albright syndrome is characterized by peripheral precocious puberty, irregular café-au-lait macules, and polyostotic fibrous dysplasia (e.g. recurrent fractures).
Miscellane
ous
(Multisyste
m)
The main features of Prader-Willi syndrome are hypotonia, hyperphagia, and obesity. Patients are at risk for sleep apnea, type 2 diabetes mellitus, and gastric rupture.
Miscellane
ous
(Multisyste
m)
Marfan syndrome is an autosomal dominant disorder that results from mutations of the fibrillin-1 gene. Affected patients have tall stature; long, thin extremities; arachnodactyly; joint hypermobility; upward
lens dislocation; and aortic root dilation.
Miscellane
ous
(Multisyste
m)
Duchenne muscular dystrophy presents with gross motor delay (e.g. delayed independent walking), Gower sign, and progressive muscle weakness. Initial screening reveals elevated creatine kinase, and
genetic analysis typically confirms the diagnosis.
Miscellane
ous
(Multisyste
m)
Duchenne muscular dystrophy should be suspected in a boy age < 5 with proximal muscle weakness and calf pseudohypertrophy. Patients have markedly reduced or absent dystrophic protein expression
within the muscle.
Miscellane
ous
(Multisyste
m)
Infants with Edwards syndrome (trisomy 18) commonly have microcephaly, prominent occiput, fetal growth restriction, and micrognathia, as well as closed fists with overlapping digits and rocker-bottom feet.
The mortality rate in the first year of life approaches 95%.
Male
Reproducti
ve System
Balanitis (i.e. inflammation of the glans penis) is common in uncircumcised toddlers due to poor genital hygiene. Candida albicans infection should be considered when thick, white discharge is present, and
budding yeast on potassium hydroxide microscopy confirms the diagnosis. Treatment includes proper hygiene and a topical antifungal.
Male
Reproducti
ve System
Hematuria in the setting of direct penile trauma is concerning for urethral injury and should prompt retrograde urethrography.
Male
Reproducti
ve System
Intra-abdominal testicular torsion should be suspected in a patient with cryptorchidism and an acute abdomen. Infants may have irritability, inconsolable crying, and pain with abdominal palpation.
Male
Reproducti
ve System
Congenital adrenal hyperplasia is most commonly due to 21-hydroxylase deficiency, which results in decreased cortisol and increased 17-hydroxyprogesterone and androgen production. Excess androgen
leads to virilization (e.g. underdeveloped phallus, hypospadias) in female (46,XX) infants.
Male
Reproducti
ve System
Hypospadias is characterized by a ventrally displaced urethral opening and dorsal hooded foreskin. Urologic evaluation is required prior to circumcision because the foreskin may be needed for hypospadias
repair, and conventional circumcision techniques may be unsafe.
Male
Reproducti
ve System
Severe hypospadias is characterized by a urethral meatus located at the perineum or scrotum, an underdeveloped penis/glans, and severe penile curvature. This condition may be indicative of a disorder of
sex development and warrants karyotype analysis and pelvic ultrasound.
Male
Reproducti
ve System
Cryptorchidism, or an undescended testis, is ideally corrected with orchiopexy by age 1 year to reduce the risk of complications (e.g. infertility, testicular torsion, testicular malignancy). However, even after
surgery, the risk of testicular germ cell tumor remains elevated compared to the general population.
Male
Reproducti
ve System
Newborn hydroceles typically present with painless scrotal swelling that transilluminates on examination. Management includes observation and reassurance, as most cases resolve spontaneously by age 1
year.
Infectious
Diseases
Neonatal direct hyperbilirubinemia is always pathologic and warrants evaluation. A serious bacterial infection should be considered in such patients, particularly with signs of sepsis (e.g. poor feeding,
lethargy) and/or an abnormal urinalysis (e.g. leukocyte esterase); initial management includes obtaining cultures and initiating prompt antibiotic therapy.
Infectious
Diseases
Chorioretinitis, or inflammation and scarring of the retina and choroid, is typically caused by chronic infection (e.g. Toxoplasma gondii, cytomegalovirus). Congenital toxoplasmosis is the most common
etiology, and additional findings include macrocephaly (due to hydrocephalus), hepatosplenomegaly, and seizures.
Infectious
Diseases
Congenital syphilis classically causes a nonblanching, maculopapular rash in the neonatal period that involves the palms and soles. Evaluation begins with rapid plasma reagin testing. A high index of
suspicion is required because primary maternal infection in pregnancy may lead to falsely reassuring negative screening.
Infectious
Diseases
Young children with latent tuberculosis (TB) are at high risk for progression to active TB and may have negative testing (e.g. tuberculosis skin test) due to a limited initial immune response. Therefore,
treatment of latent TB should be initiated in patients age < 5 with close contacts with active TB, regardless of initial screening test results.
Infectious
Diseases
Catheter-related bloodstream infection should always be considered in a patient with a central line and new fever. Complications of bacteremia include osteomyelitis, septic pulmonary emboli and secondary
pneumonia, and infective endocarditis.
Infectious
Diseases
The presentation of infective endocarditis can be subacute with prolonged fever, fatigue, and myalgias in the setting of a murmur. Laboratory evidence of inflammation and glomerulonephritis supports the
diagnosis, and echocardiography and blood cultures are warranted.
Infectious
Diseases
Community-acquired pneumonia in school-aged children is frequently due to atypical bacteria such as Mycoplasma pneumoniae. The presentation is generally mild and often includes fever, prolonged
cough, and bilateral crackles on lung examination.
Infectious
Diseases
Mycoplasma pneumoniae is a common cause of community-acquired pneumonia (CAP). Patients typically present with slow-onset malaise, cough, dyspnea, and fever. In contrast to other many forms of
bacterial CAP, patients with Mycoplasma pneumonia typically have patchy or reticulonodular bilateral pulmonary infiltrates (rather than lobar infiltrate). Treatment with azithromycin is first-line; β-lactams are
ineffective because the organism lacks a cell wall.
Infectious
Diseases
Rocky Mountain spotted fever typically presents with 3-4 days of nonspecific symptoms followed by a characteristic rash. The rash often begins as maculopapular lesions on the wrists and ankles, involves
the palms/soles, and then spreads centrally; it usually evolves to petechial lesions over time. Thrombocytopenia, elevated aminotransferases, and hyponatremia are important laboratory clues. Empiric
doxycycline should be initiated while awaiting confirmation with serology.
Infectious
Diseases
Miliary tuberculosis is caused by lymphohematogenous dissemination of Mycobacterium tuberculosis from the lungs to other organs, resulting in micronodular lesions in the lungs, liver, and spleen. It is most
common among infants and immunocompromised hosts with poor T-cell function and is often associated with false-negative tuberculosis test results.
Infectious
Diseases
Primary pulmonary tuberculosis (TB) should be suspected in children with chronic cough and characteristic chest x-ray findings (e.g. hilar lymphadenopathy, consolidation, pleural effusion), particularly if
they have risk factors for TB exposure (e.g. homeless shelter).
Infectious
Diseases
Streptococcus agalactiae (group B Streptococcus) are gram-positive cocci in pairs and chains on culture. It can cause early-onset neonatal sepsis or late-onset disease in young infants. Late-onset infection
most commonly presents at age 4-5 weeks with bacteremia, meningitis, and/or focal infection (e.g. cellulitis-adenitis).
Infectious
Diseases
Molluscum contagiosum, a benign skin infection common in children, presents with flesh-colored papules with central umbilication. Lesions resolve within 6-12 months. Management is typically reassurance
and observation.
Infectious
Diseases
Acute HIV infection often causes unexplained fever, maculopapular rash, and aseptic meningitis. It should be suspected in sexually active or high-risk patients when more common causes of these
symptoms have been excluded.
Infectious
Diseases
Listeria monocytogenes can cause severe infection (e.g. bacteremia) in pregnant women, cross the placenta, and lead to early-onset neonatal sepsis. Symptoms of neonatal sepsis are often nonspecific
and include lethargy, poor perfusion, and respiratory distress.
Infectious
Diseases
Travel-associated diarrhea lasting > 2 weeks is most commonly parasitic, and Entamoeba histolytica infection should be suspected in returning travelers with prolonged bloody diarrhea.
Infectious
Group B Streptococcus is the most common pathogen in early-onset neonatal pneumonia. Symptoms include respiratory distress (e.g. retractions, tachypnea) and hypoxia, and chest x-ray shows diffuse
Diseases
alveolar opacities, often with pleural effusions.
Infectious
Diseases
Purpura is a late manifestation of meningococcal meningitis and suggests disseminated intravascular coagulation (DIC), which is characterized by clotting factor and platelet consumption. Laboratory
evidence of DIC includes thrombocytopenia, elevated PT and PTT, and low fibrinogen.
Infectious
Diseases
Antimicrobial chemoprophylaxis against Neisseria meningitidis is indicated for close contacts (regardless of vaccination status) who have had exposure during the 7 days before symptom onset until 24
hours after appropriate antibiotic initiation. Medication regimens include rifampin, ciprofloxacin, or ceftriaxone and should be given as soon as possible.
Infectious
Diseases
Neisseria meningitidis reproduces primarily in the nasopharynx, and infectious particles are readily aerosolized through coughing and respiratory procedures. Droplet precautions should be ordered for all
potentially infected patients until they have been treated with antibiotics for 24 hours.
Infectious
Diseases
Viral encephalitis typically presents with altered mental status in addition to fever, headache, seizure, and focal neurologic findings. Temporal lobe abnormalities and edema are highly suggestive of herpes
simplex virus encephalitis.
Infectious
Diseases
Risk factors for developing acute otitis media include young age (6-18 months), lack of breastfeeding, day care attendance, and passive smoke exposure.
Infectious
Diseases
Acute otitis media with tympanic membrane (TM) perforation typically presents with acute otalgia, otorrhea, and an erythematous and perforated TM. Amoxicillin is first-line therapy; amoxicillin-clavulanate is
indicated in a patient who has received amoxicillin within the past 30 days.
Infectious
Diseases
Norovirus is the most common gastroenteritis in the United States and is often implicated in outbreaks on cruise ships and in schools. Patients develop vomiting, watery diarrhea, and abdominal pain 1-2
days after exposure. Treatment is supportive, and symptoms generally resolve within 2-3 days.
Infectious
Diseases
Campylobacter gastroenteritis is most commonly caused by undercooked poultry and presents with fever, abdominal pain, and mucus-filled (sometimes bloody) diarrhea. Disease is typically mild and selflimited, requiring symptomatic care only.
Infectious
Diseases
Travelers’ diarrhea is a generally mild, self-limited illness that presents acutely with watery diarrhea and abdominal pain in a patient who has traveled to a resource-limited area with poor sanitation.
Enterotoxigenic Escherichia coli is the most common etiology.
Infectious
Diseases
Bacterial gastroenteritis should be suspected in a patient with fever, abdominal cramping, and bloody or mucoid diarrhea. Positive stool culture is diagnostic, and treatment is generally supportive care and
close follow-up in well-appearing children. Empiric antibiotics are not recommended due to the increased risk of hemolytic uremic syndrome associated with Escherichia coli O157:H7.
Infectious
Diseases
Bronchiolitis is a viral lower respiratory tract infection that presents in children age < 2 with cough, congestion, diffuse wheezes/crackles, and respiratory distress. Diagnosis is clinical, and treatment is
supportive (e.g. nasal saline and suctioning).
Infectious
Diseases
Acute, unilateral cervical lymphadenitis in children typically presents with an erythematous, tender, warm lymph node, as well as possible fever and fluctuance. Anaerobes are often the causative organisms
in patients with a history of periodontal disease or dental caries via local spread of bacteria.
Infectious
Diseases
Neonatal sepsis typically causes nonspecific symptoms, including irritability, poor feeding, and lethargy. An abnormal leukocyte count is common. Empiric therapy is intravenous ampicillin and gentamicin to
treat the most common pathogens, including group B Streptococcus, Escherichia coli, and Listeria monocytogenes.
Infectious
Diseases
Pertussis is a highly contagious infection characterized by a whooping cough. Infants are at high risk of life-threatening apnea and cyanosis. Empiric antibiotics (e.g. azithromycin) reduce transmission and,
in some cases, may shorten illness duration.
Infectious
Diseases
Untreated acute bacterial rhinosinusitis can lead to intracranial extension of infection, such as brain abscess. Symptoms include focal headache, early-morning vomiting, altered mental status, and/or focal
neurologic changes. Urgent CT scan of the head reveals a ring-enhancing lesion.
Infectious
Diseases
Gastroenteritis caused by Shigella sonnei presents acutely with high fever, abdominal cramping, and mucoid and/or bloody diarrhea. It may be associated with seizures in children.
Infectious
Diseases
Postexposure prophylaxis is indicated for newborns born to mothers with varicella developing 5 days before to 2 days after delivery. Prophylaxis is achieved by administering varicella-specific
immunoglobulin to the infants, who are too young to receive live varicella-zoster virus vaccine.
Infectious
Nontyphoidal Salmonella is a common cause of bacterial foodborne illness in the United States. Most cases arise from undercooked poultry or improperly refrigerated food. Symptoms usually begin within 3
Diseases
days and include fever, vomiting, diarrhea, and abdominal pain.
Infectious
Diseases
Characteristic features of congenital cytomegalovirus (CMV) infection include microcephaly and periventricular calcifications. Pregnant women most commonly acquire CMV through contact with infected
body fluids (e.g. saliva) and transmit the infection vertically to the fetus via placental transfer.
Infectious
Diseases
The prevalence of measles has been reduced drastically by measles-mumps-rubella vaccination. The vaccine has an excellent safety profile, but within 1-3 weeks after immunization a small fraction of
patients may develop a fever and mild rash that resolve without treatment.
Infectious
Diseases
The varicella-zoster virus vaccine is recommended for all children at ages 1 and 4 to prevent primary varicella infection. The live-attenuated vaccine virus can cause a varicella-like rash that is mild but
contagious.
Infectious
Diseases
Cat-scratch disease, caused by Bartonella henselae, most commonly presents with a mild papular or nodular skin lesion and ipsilateral lymphadenitis of gradual onset. These symptoms in the setting of cat
exposure are sufficient to make a clinical diagnosis of cat-scratch disease.
Infectious
Diseases
Herpangina is caused by Coxsackie virus infection. It typically presents with fever and oropharyngeal vesicles and ulcers on the posterior soft palate, palatine pillars, tonsils, and uvula.
Infectious
Diseases
Retropharyngeal abscess in children presents with fever, dysphagia, muffled voice, and pain with neck extension. Lateral neck soft-tissue x-rays will show a widened prevertebral space.
Infectious
Diseases
Brain abscess in children frequently presents with headache, fever, focal neurologic deficits, and seizure. Cyanotic congenital heart disease is a risk factor for brain abscess due to hematogenous spread of
bacteria.
Infectious
Diseases
Congenital syphilis presents with nonspecific signs of congenital infection (jaundice, hepatosplenomegaly, blueberry muffin spots, and growth restriction). More specific findings that are highly suggestive of
congenital syphilis include snuffles (copious rhinorrhea) and a maculopapular rash that may desquamate or become bullous.
Infectious
Diseases
Acute bacterial rhinosinusitis should be considered in children with cough or nasal discharge/congestion that persists for > 10 days without improvement. The 2 most common risk factors are viral upper
respiratory infections and allergic rhinitis.
Infectious
Diseases
Orbital cellulitis can be differentiated from preseptal cellulitis by the presence of pain with extraocular movements, visual changes, proptosis, or ophthalmoplegia. Orbital cellulitis is a severe infection that
can lead to permanent visual impairment or intracranial complications (e.g. infection, thrombosis).
Infectious
Diseases
Acute, unilateral cervical lymphadenitis is an infection in children age < 5 characterized by an enlarged, markedly tender, warm, erythematous cervical node. Empiric antibiotic therapy (e.g. clindamycin)
should target the most common bacteria, including Staphylococcus aureus, Streptococcus pyogenes, and anaerobes.
Infectious
Diseases
The most common causes of viral meningitis are enteroviruses, such as group B coxsackievirus. Cerebrospinal fluid analysis shows mild pleocytosis with lymphocytic predominance, normal to slightly
elevated protein, and normal glucose.
Infectious
Diseases
Rabies is a fatal, neurotropic viral disease transmitted to humans by exposure to saliva from an infected animal through a bite. Paresthesia of the bite wound is characteristic, and after an incubation period
of 1-3 months, patients develop encephalopathy, dysautonomia, and hydrophobia, followed by coma and death.
Infectious
Diseases
Congenital rubella syndrome presents with cataracts, patent ductus arteriosus, and sensorineural hearing loss. Infection is best prevented by vaccination prior to conception.
Infectious
Diseases
Ticks should be removed with a small forceps as soon as possible to reduce the risk of a tickborne illness. If the tick is attached for < 36 hours, antimicrobial prophylaxis (e.g. single-dose doxycycline) for
Lyme disease is not required.
Infectious
Diseases
Staphylococcus aureus and Streptococcus pyogenes are the most common causes of acute, unilateral cervical lymphadenitis in children. Affected nodes are enlarged, erythematous, and markedly tender.
Suppuration is common.
Infectious
Diseases
Palpable cervical lymph nodes are common in children and young adults. In the absence of worrisome features (e.g. > 2 cm, firm, immobile lymph nodes; systemic symptoms), palpable lymph nodes can be
observed for resolution.
Infectious
Diseases
Meningococcal meningitis presents most commonly in teens and young adults with an abrupt onset of rapid progression of fever, headache, myalgias, petechial rash, nuchal rigidity, and shock.
Cerebrospinal fluid shows evidence of bacterial meningitis (e.g. low glucose, high protein, neutrophilic leukocytosis).
Infectious
Diseases
All nonimmune, asymptomatic, healthy patients age > 1 year with varicella exposure should receive postexposure prophylaxis with the varicella vaccine. At-risk patients who cannot receive the varicella
vaccine should receive varicella immunoglobulin instead.
Infectious
Diseases
Scarlet fever is caused by group A Streptococcus (S. pyogenes) and presents with fever, pharyngitis, circumoral pallor, strawberry tongue, and rash. The classic ‘sandpaper’ rash is prominent along skin
folds (e.g. axillae, groin) and often results in desquamation.
Infectious
Diseases
Macrolides (e.g. azithromycin) are the first-line medications for pertussis treatment and postexposure prophylaxis. All close and high-risk contacts should be given prophylaxis regardless of immunization
status.
Infectious
Diseases
Pertussis should be suspected with paroxysmal cough and post-tussive emesis, even if patients are fully immunized. Vaccination reduces infection risk but immunity wanes over 5-10 years.
Infectious
Diseases
A monoarticular effusion of the knee in an adolescent is most often caused by trauma, bacterial infection, or inherited blood disorder. Less common causes include late Lyme disease, juvenile arthritis, and
serum sickness, all of which are typically accompanied by a preceding/ongoing rash.
Infectious
Diseases
Staphylococcal aureus is the most common pathogen isolated in infants and young children with cystic fibrosis (CF). Pseudomonas aeruginosa is the most common cause of CF-related pneumonia in adults
and contributes to life-threatening decline in pulmonary function.
Infectious
Diseases
Pinworm infection typically presents with nocturnal perianal pruritus and can cause vulvar and perianal erythema. Diagnosis is confirmed by visualization of eggs and/or pinworms on the ‘tape test’.
Treatment is with albendazole or pyrantel pamoate.
Infectious
Diseases
Neonatal tetanus can occur in infants born to unimmunized mothers, frequently following umbilical stump infection. Affected infants present in the first few weeks of life with trismus, spasms, and
hypertonicity. Treatment includes antibiotics and tetanus immune globulin.
Infectious
Diseases
Congenital toxoplasmosis classically presents with diffuse intracerebral calcifications and ventriculomegaly. Maternal acquisition of toxoplasmosis is most commonly due to ingestion of cat feces or raw or
undercooked meat.
Infectious
Diseases
Group B Streptococcus (GBS) is the most common cause of neonatal sepsis. Prevention of early onset GBS infection includes maternal screening before delivery and prophylaxis with intrapartum
antibiotics, but these measures do not decrease the risk of late-onset (> 7 days) GBS sepsis.
Infectious
Diseases
HIV infection in infancy presents with failure to thrive, lymphadenopathy, and opportunistic infections (e.g. Pneumocystis pneumonia, severe thrush). Selective loss of CD4+ cells is suggestive of HIV, and
PCR reaction testing confirms the diagnosis.
Infectious
Diseases
Maternal-fetal transmission of the rubella virus is most teratogenic during the first trimester. The classic triad of congenital rubella syndrome includes sensorineural hearing loss, cardiac defects (e.g. patent
ductus arteriosus), and cataracts.
Infectious
Diseases
Gonococcal conjunctivitis occurs in infants born to untreated mothers and presents at age 2-5 days with severe conjunctivitis that can ulcerate, scar, and blind without prompt treatment. Prophylactic
erythromycin ophthalmic ointment administered shortly after birth is highly effective in preventing gonococcal conjunctivitis.
Infectious
Diseases
Nonbullous impetigo is characterized by papules and pustules with overlying honey-colored crusting. Topical antibiotics (e.g. mupirocin) are the treatment of choice for localized infection.
Infectious
Diseases
Sickle cell disease (SCD) causes functional asplenia due to recurrent splenic infarction. Therefore, patients are at risk of overwhelming infection with encapsulated organisms and should receive vaccination
and penicillin prophylaxis. Pneumococcus remains the most common cause of sepsis in patients with SCD.
Infectious
Diseases
Bacterial meningitis in infants presents with fever and signs of meningeal irritation as well as increased intracranial pressure. Lumbar puncture should be performed promptly to diagnose and properly
manage bacterial meningitis.
Infectious
Diseases
Enterobius vermicularis (pinworm) infection is highly contagious and manifests as nocturnal perianal pruritus. First-line treatment is with pyrantel pamoate or albendazole.
Infectious
Diseases
Acute airway obstruction is a rare but potentially fatal complication of infectious mononucleosis. Patients have dysphagia and respiratory distress, with examination findings of marked oropharyngeal
inflammation and severe tonsillar enlargement. Treatment includes corticosteroids.
Infectious
Diseases
Septic arthritis should be suspected when a patient has acute fever, joint pain, inability to bear weight, elevated erythrocyte sedimentation rate, and leukocytosis. Emergency surgical drainage and
intravenous antibiotics are needed to prevent permanent joint destruction.
Infectious
Diseases
Staphylococcal aureus and Salmonella are the most common causes of osteomyelitis in children with sickle cell disease. Therefore, empiric antibiotics should include antistaphylococcal (e.g. clindamycin)
and gram-negative (e.g. ceftriaxone) coverage.
Infectious
Diseases
Bordetella pertussis causes whooping cough, a vaccine-preventable disease characterized by severe coughing episodes, which are often associated with post-tussive emesis and an inspiratory whoop.
Physical examination may reveal evidence of increased capillary pressure (e.g. facial petechiae, subconjunctival hemorrhage).
Infectious
Diseases
Infectious mononucleosis is most commonly caused by the Epstein-Barr virus and presents with fever, malaise, exudative pharyngitis, cervical lymphadenopathy, and hepatosplenomegaly. A polymorphous,
maculopapular rash frequently develops after administration of amoxicillin but does not represent a true drug allergy.
Infectious
Diseases
Acute rheumatic fever is a complication of untreated Streptococcus pyogenes pharyngitis. Major clinical features include carditis, chorea, erythema marginatum, subcutaneous nodules, and migratory
arthritis.
Infectious
Diseases
In an infant with meningococcemia, watch out for Waterhouse-Friderichsen syndrome, which is characterized by a sudden vasomotor collapse and skin rash due to adrenal hemorrhage.
Infectious
Diseases
Meningococcal meningitis is a common cause of bacterial meningitis in children and classically presents with fever, lethargy, nuchal rigidity, and petechiae/purpura. Symptoms progress rapidly (over 12-24
hours), and the disease can be complicated by shock, multiorgan failure, disseminated intravascular coagulation, and death.
Infectious
Diseases
Malaria should be suspected in any ill patients, especially those with a history of febrile paroxysms, who have traveled to an endemic-tropical region. Thick and thin blood smears should be ordered for
parasite detection and quantification. Nonimmune children are at highest risk of death, but the sickle cell trait confers some protection from severe complications.
Infectious
Diseases
Preseptal cellulitis is an infection located anterior to the orbital septum. In contrast to orbital cellulitis, preseptal cellulitis does not involve orbital fat to extraocular muscles, and therefore does not cause
visual changes, ophthalmoplegia, painful eye movements, or proptosis.
Infectious
Diseases
Croup is a viral illness most commonly caused by parainfluenza virus. It presents with fever, hoarseness, inspiratory stridor, and a harsh, barking, seal-like cough.
Infectious
Diseases
Nontypeable Haemophilus influenzae, Streptococcus pneumoniae, and Moraxella catarrhalis are the most common bacterial causes of acute bacterial rhinosinusitis, which commonly presents with > 10
days of persistent nasal discharge and cough.
Infectious
Diseases
Rubella is a mild illness that presents with low-grade fever, a maculopapular rash with cephalocaudal spread, and posterior auricular and suboccipital lymphadenopathy. Adolescents and adults, especially
females, may also have arthralgias and/or arthritis that can persist after the rash resolves.
Infectious
Diseases
Staphylococcal aureus causes foodborne illness due to the ingestion of preformed toxins. Vomiting is the pre-eminent symptom and usually begins 1-6 hours after exposure. Diarrhea may or may not be
present. Colonized food handlers usually transmit S. aureus to food during preparation.
Infectious
Diseases
The treatment of measles is supportive; however, vitamin A reduces morbidity and mortality rates in children with severe measles and should be administered to hospitalized patients.
Infectious
Diseases
Mumps presents with fever and parotitis. Although mumps is generally self-limited, complications can include orchitis, aseptic meningitis, pancreatitis, and deafness. Complications are more common in
older or unvaccinated individuals.
Infectious
Diseases
Infectious mononucleosis is characterized by prolonged fever, pharyngitis, fatigue, lymphadenopathy, and splenomegaly. Sports (especially contact sports) should be avoided for at least 3-4 weeks due to
the risk of splenic rupture.
Infectious
Diseases
Osteomyelitis is a bacterial infection of the bone that typically presents with fever and focal bony pain. Infection is most often caused by hematogenous spread of Staphylococcus aureus.
Infectious
Diseases
Newborns of mothers of hepatitis B virus (HBV) infection should receive passive immunization with hepatitis B immune globulin and active immunization with HBV vaccine within 12 hours of birth.
Infectious
Diseases
Rubella is a mild illness characterized by low-grade fever, lymphadenopathy (particularly suboccipital, posterior auricular, and posterior cervical), and a maculopapular exanthem that spreads
cephalocaudally. Forchheimer spots (erythematous papules on the soft palate) may be seen.
Infectious
Diseases
Measles is characterized by a prodrome of cough, coryza, and conjunctivitis followed by a maculopapular rash that spreads in a cephalocaudal pattern. This highly contagious infection is transmitted by the
airborne route.
Infectious
Diseases
Varicella (chickenpox) is characterized by successive crops of intensely pruritic vesicles. The disease is usually self-limiting and has been significantly reduced in the United States by widespread
immunization with a 2-dose series.
Infectious
Diseases
Septic arthritis should be suspected in children with acute onset of fever and joint pain and swelling. Management includes arthrocentesis, empiric parenteral antibiotics, and prompt surgical drainage.
Infectious
Diseases
The prodrome of measles includes fever, cough, coryza, and nonpurulent conjunctivitis. Koplik spots, small white lesions on the buccal mucosa, may also develop and are pathognomonic of measles.
Following the prodrome, a maculopapular rash appears on the face and spreads in a cephalocaudal and centrifugal pattern.
Infectious
Diseases
Neonatal sepsis and meningitis present with nonspecific symptoms, including irritability, temperature instability (fever or hypothermia), poor feeding, and lethargy. In hemodynamically stable neonates with
suspected sepsis, blood, urine, and cerebrospinal fluid, cultures should be obtained followed by administration of empiric antibiotics.
Infectious
Diseases
Group A Streptococcus (GAS) pharyngitis presents with fever, tonsillar exudates, and tender anterior cervical lymphadenopathy. Unlike in adults, GAS pharyngitis in children should always be confirmed by
rapid streptococcal antigen testing or throat culture prior to initiation of antibiotics. Penicillin and amoxicillin are the preferred treatment options.
Hematolog
y&
Oncology
Post-transplantation lymphoproliferative disorder is a plasmacytic or lymphoid proliferation that occurs in those on high-dose immunosuppressive medications following transplantation. Most cases are due to
Epstein-Barr virus (EBV) and are marked by reticuloendothelial manifestations (e.g. lymphadenopathy, hepatosplenomegaly, cytopenias) and elevated EBV titers.
Hematolog
y&
Oncology
Physiologic anemia of infancy is an asymptomatic condition characterized by a normal decrease in hemoglobin with a nadir at age 2-3 months. Pathophysiology involves a transient down-regulation of
erythropoietin due to increased tissue oxygenation after birth.
Hematolog
y&
Oncology
Pancytopenia with a low reticulocyte response indicates a bone marrow condition, and peripheral blood smear and bone marrow evaluation are diagnostic. In aplastic anemia, peripheral smear lacks normalappearing cells and bone marrow is profoundly hypocellular with abundant fat cells.
Hematolog
y&
Oncology
Peutz-Jeghers syndrome is a genetic condition characterized by hyperpigmented mucocutaneous macules, gastrointestinal polyps that can bleed and cause iron deficiency anemia, and an increased risk for
malignancy. Upper and lower endoscopies are performed regularly to screen for polyps and cancer.
Hematolog
y&
Oncology
Splenic sequestration is a potentially life-threatening complication of sickle cell disease, an inherited red blood cell (RBC) disorder characterized by the presence of hemoglobin S on electrophoresis. RBCs
become entrapped within the spleen, causing acute anemia and tender splenomegaly.
Hematolog
y&
Oncology
Splenic sequestration crisis is a life-threatening complication of sickle cell disease in which red blood cells become entrapped within the spleen. Patients have anemia, splenomegaly, and hypovolemic
shock. Treatment focuses on the restoration of circulatory volume with intravenous fluids and packed red blood cell transfusion.
Hematolog
y&
Oncology
Exchange transfusion is the treatment of ischemic stroke in patients with SCD. Replacing sickled cells with healthy red blood cells increases oxygen-carrying capacity and improves hyperviscosity, thereby
limiting further occlusion.
Hematolog
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Oncology
Penicillins and cephalosporins can cause drug-induced immune hemolysis by binding to the surface of red blood cells and triggering an IgG antibody response. Patients typically develop acute anemia and
signs of hemolysis (e.g. jaundice, dark urine) within hours of antibiotic administration.
Hematolog
y&
Oncology
Prolonged fever and lymphadenopathy (particularly supraclavicular) are common manifestations of Hodgkin lymphoma. Reed-Sternberg cells on lymph node biopsy are diagnostic.
Hematolog
y&
Urticarial transfusion reactions are common and caused by preformed recipient IgE antibodies reacting against a soluble allergen in the donated plasma (or vice versa). Patients have isolated urticaria that
Oncology
improves with transfusion cessation and diphenhydramine administration. If no signs of anaphylaxis are present (e.g. wheeze, angioedema, hypotension), the transfusion can be resumed without additional
evaluation.
Hematolog
y&
Oncology
Glucose-6-phosphate dehydrogenase deficiency is an X-linked disorder associated with episodes of hemolytic anemia during oxidative stress. In order to prevent hemolysis, oxidative medications such as
nitrofurantoin should be avoided.
Hematolog
y&
Oncology
Treatment of infections due to Shiga toxin-producing Escherichia coli O157:H7 is supportive care only. Antibiotics increase the risk of developing hemolytic uremic syndrome.
Hematolog
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Oncology
Patients with chronic immune thrombocytopenia have platelets < 100,000/mm3 for > 1 year. Splenectomy is an option for those with persistent bleeding and thrombocytopenia despite repeated
pharmacologic interventions (e.g. glucocorticoids, anti-D, intravenous immunoglobulin).
Hematolog
y&
Oncology
Inhibitor development occurs in 25% of patients with severe factor VIII deficiency. It should be considered in a patient with bleeding refractory to replacement therapy or with increased bleeding frequency.
Hematolog
y&
Oncology
β-thalassemia major is characterized by increased hemoglobin A2 and hemoglobin F on electrophoresis due to absent β globin expression. Patients are transfusion-dependent and at risk for iron overload.
Therefore, chelation therapy is required to improve survival.
Hematolog
y&
Oncology
The presence of γ tetramers (hemoglobin Barts) on hemoglobin analysis is consistent with α-thalassemia. Laboratory studies typically reveal a microcytic anemia, an elevated erythrocyte count, and target
cells on peripheral smear.
Hematolog
y&
Oncology
Iron studies are performed prior to hemoglobin electrophoresis in patients with microcytic anemia suspicious for iron deficiency (e.g. heavy menses, low erythrocyte count, reactive thrombocytosis) and
concomitant thalassemia (e.g. Greek origin, family history).
Hematolog
y&
Oncology
Hereditary spherocytosis (HS) is a genetic defect in red blood cell (RBC) membrane proteins that results in sphere-shaped RBCs. HS should be suspected in a patient with jaundice, splenomegaly, and a
family history suggestive of hemolytic anemia requiring splenectomy. Laboratory findings include elevated reticulocytes and mean corpuscular hemoglobin concentration and negative direct Coombs test.
Hematolog
y&
Oncology
Hereditary spherocytosis (HS) is an inherited disorder caused by a defect in red blood cell membrane proteins, leading to spherocyte formation and hemolysis. Hemolytic anemia with an elevated mean
corpuscular hemoglobin concentration in an infant with prolonged neonatal jaundice is suggestive of HS.
Hematolog
y&
Oncology
Acute lymphoblastic leukemia often presents with bruising, petechiae, and bleeding due to impaired platelet production in the bone marrow. Other common findings are nontender lymphadenopathy and
hepatosplenomegaly.
Hematolog
y&
Oncology
Bone pain and pancytopenia in a child are concerning for acute lymphoblastic leukemia. Other characteristic findings include fever, pallor, bruising, and hepatosplenomegaly.
Hematolog
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Oncology
Neuroblastoma is a childhood malignancy derived from primitive sympathetic ganglia. Classic presentation includes an abdominal mass and systemic symptoms (e.g. weight loss). Other characteristic
features include periorbital ecchymoses (i.e. orbital metastases) and opsoclonus-myoclonus syndrome.
Hematolog
y&
Oncology
Excessive cow’s milk consumption (> 24 oz/day) commonly causes microcytic, iron deficiency anemia with a low erythrocyte count and elevated red blood cell distribution width.
Hematolog
y&
Oncology
Thalassemia minor typically presents with microcytic anemia and a normal red cell distribution width. An elevated reticulocyte count reflects a compensatory bone marrow response to the anemia.
Hematolog
Iron deficiency anemia is common in infants and toddlers who drink excessive amounts of cow’s milk. In addition to a decreased hemoglobin level, a low mean corpuscular volume and red blood cell count
y&
Oncology
are also seen. Treatment consists of empiric oral iron therapy.
Hematolog
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Oncology
Wiskott-Aldrich syndrome is an X-linked disorder characterized by the triad of thrombocytopenia, eczema, and recurrent infections. The thrombocytopenia is the most consistent feature and is characterized
by a significant reduction in platelet volume and size.
Hematolog
y&
Oncology
Hydroxyurea is used in patients with sickle cell disease to decrease pain crises, the need for transfusions, and episodes of acute chest syndrome. The primary mechanism of action is an increase in fetal
hemoglobin, which dilutes the amount of sickle hemoglobin.
Hematolog
y&
Oncology
Polycythemia is defined as a hematocrit level > 65% in term neonates. Risk factors include excessive transfusion, intrauterine hypoxia, and maternal diabetes. High blood viscosity limits organ perfusion and
can cause respiratory distress, hypoglycemia, and poor feeding.
Hematolog
y&
Oncology
Acute hemolytic transfusion reaction is an uncommon, life-threatening reaction due to transfusion of mismatched blood (e.g. ABO incompatibility), which causes fever, flank pain, and hemoglobinuria within 1
hour of transfusion initiation. Continued hemolysis can lead to acute renal failure, disseminated intravascular coagulation, and shock.
Hematolog
y&
Oncology
Sickle cell disease normally causes normocytic, hemolytic anemia with compensatory reticulocytosis. Chronic hemolysis without adequate folic acid intake increases the risk for folate deficiency, a
macrocytic anemia with an inappropriately low reticulocyte count.
Hematolog
y&
Oncology
Sickle cell disease is the most common cause of pediatric stroke, and diagnosis can be confirmed by hemoglobin electrophoresis.
Hematolog
y&
Oncology
Fanconi anemia is the most common cause of congenital bone marrow failure and is due to defective DNA repair. In addition to pancytopenia, characteristic features include short stature, thumb anomalies,
and abnormal skin pigmentation.
Hematolog
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Oncology
Howell-Jolly bodies are nuclear remnants within red blood cells typically removed by the spleen. Their presence strongly suggests asplenia or functional hyposplenism.
Hematolog
y&
Oncology
Pneumococcal vaccination plus penicillin prophylaxis can prevent almost all cases of pneumococcal sepsis in patients with sickle cell anemia.
Hematolog
y&
Oncology
Osteonecrosis, or avascular necrosis, is a common complication of sickle cell disease. Patients typically report chronic groin, thigh, or buttock pain without warmth or erythema of the joints, leukocytosis, or
elevated inflammatory markers.
Hematolog
y&
Oncology
Hemophilic arthropathy is a consequence of recurrent hemarthroses and is associated with hemosiderin deposition leading to synovitis and fibrosis within the joint. The risk of hemophilic arthropathy is
reduced by prophylactic treatment with factor concentrates.
Hematolog
y&
Oncology
Patients with cystic fibrosis are at risk for fat-soluble vitamin (i.e. A, D, E, and K) deficiency due to fat malabsorption from pancreatic insufficiency. Vitamin K is an important cofactor in the activation of
coagulation factors II, VII, IX, and X. Vitamin K deficiency leads to easy bruising, mucosal bleeding, and prolonged prothrombin time.
Hematolog
y&
Oncology
Hemolytic uremic syndrome typically occurs in children who have recently recovered from a diarrheal illness and who have acute renal injury, thrombocytopenia, and microangiopathic hemolytic anemia with
schistocytes on peripheral smear.
Hematolog
y&
Oncology
Patients with sickle cell disease can develop aplastic crises characterized by an acute drop in hemoglobin, a reticulocyte count < 1%, and no splenomegaly. Parvovirus B19 is the most common cause.
Hematolog
y&
Neuroblastoma arises from neural crest cells, which are precursors to the sympathetic ganglia and adrenal medulla. Neuroblastoma arising in the cervical paravertebral sympathetic chain can present as
Oncology
isolated Horner syndrome (i.e. ptosis, miosis, anhidrosis).
Hematolog
y&
Oncology
Diamond-Blackfan anemia is a congenital, pure red cell aplasia characterized by macrocytic anemia and several congenital abnormalities, such as cleft palate, webbed neck, and triphalangeal thumbs.
Hematolog
y&
Oncology
Most patients with sickle cell trait lead normal, healthy lives. Painless hematuria is the most common complication.
Hematolog
y&
Oncology
Hydroxyurea, which works by increasing fetal hemoglobin levels, is indicated in patients with sickle cell disease who have frequent vaso-occlusive crises. It is a relatively safe therapy with a dose-limiting
side effect of myelosuppression (neutropenia, anemia, thrombocytopenia).
Hematolog
y&
Oncology
Dactylitis can be the earliest manifestation of vaso-occlusive disease in sickle cell disease and presents with the acute onset of bilateral hand and foot swelling and tenderness.
Hematolog
y&
Oncology
Anemia of prematurity is the most common cause of anemia in preterm infants. It is due to diminished erythropoietin levels, shortened red blood cell life span, and blood loss. Laboratory studies show
decreased hemoglobin and hematocrit and a relatively low reticulocyte count.
Hematolog
y&
Oncology
Splenic sequestration crisis, or pooling of red blood cells in the spleen, in sickle cell disease presents with signs of severe, acute anemia (e.g. tachycardia, pallor, shock) and splenomegaly in young patients.
Laboratory testing demonstrates normocytic anemia, reticulocytosis, and thrombocytopenia.
Hematolog
y&
Oncology
Howell-Jolly bodies are nuclear remnants of red blood cells that are usually removed by a functional spleen. Due to functional asplenia in sickle cell patients, Howell-Jolly bodies are expected findings on
peripheral smear.
Hematolog
y&
Oncology
Immune thrombocytopenia typically presents with isolated thrombocytopenia after a viral infection. Children with isolated cutaneous symptoms (e.g. petechiae) usually recover spontaneously and require
observation alone, regardless of platelet count. Those with bleeding should receive glucocorticoids, anti-D, or intravenous immunoglobulin.
Hematolog
y&
Oncology
Hemolytic uremic syndrome is characterized by the triad of hemolytic anemia, thrombocytopenia, and acute kidney injury. Presentation typically occurs after resolution of prodromal diarrhea caused by
Escherichia coli O157:H7 or, less commonly, Shigella.
Hematolog
y&
Oncology
Hemolytic uremic syndrome, which is most commonly caused by a Shiga toxin-producing strain of Escherichia coli (serotype O157:H7), is characterized by microangiopathic hemolytic anemia,
thrombocytopenia, and acute kidney injury.
Hematolog
y&
Oncology
Acute lymphoblastic leukemia is the most common cancer in children and presents with signs of bone marrow failure. The presence of > 25% lymphoblasts in the bone marrow confirms the diagnosis.
Hematolog
y&
Oncology
Hereditary spherocytosis, caused by a defect of red blood cell membrane proteins, often presents with refractory jaundice and splenomegaly on examination and laboratory evidence of a hemolytic anemia
with an increased mean corpuscular hemoglobin concentration.
Hematolog
y&
Oncology
Aplastic anemia should be suspected in any patient with pancytopenia following drug intake, radiation exposure, or viral infection. Bone marrow will demonstrate profound hypocellularity with fatty infiltration.
Hematolog
y&
Oncology
Vitamin K-deficient bleeding classically presents with bleeding in newborns (day 2-7 of life) who did not receive intramuscular vitamin K, which is essential in the enzymatic carboxylation and activation of
coagulation factors II (prothrombin), VII, IX, and X. Symptoms include easy bruising, mucosal bleeding, gastrointestinal bleeding, and/or intracranial hemorrhage; laboratory evaluation reveals prolonged PT
with or without prolonged PTT.
Hematolog
y&
The characteristic laboratory findings of iron deficiency anemia are decreased mean corpuscular volume (MCV), increased red blood cell distribution width (RDW), decreased serum iron, decreased
Oncology
transferrin saturation, and increased total iron binding capacity (TIBC). The peripheral smear will show small, hypochromic red blood cells.
Hematolog
y&
Oncology
Hereditary spherocytosis typically manifests as a triad of Coombs-negative hemolytic anemia, jaundice, and splenomegaly. It should be suspected in patients with reticulocytosis, hyperbilirubinemia,
spherocytosis, and family history of anemia. Eosin-5-maleimide binding and acidified glycerol lysis tests are diagnostic.
Hematolog
y&
Oncology
Acute lymphoblastic leukemia is most commonly seen in boys age 2-5 and presents with anemia, thrombocytopenia, and a normal or elevated white blood cell count. The presence of blasts on peripheral
smear and bone marrow biopsy is characteristic.
Hematolog
y&
Oncology
Hemarthrosis after minor trauma is suspicious for a bleeding disorder (e.g. hemophilia), and coagulation studies should be obtained. Hemophilia presents with a prolonged PTT, normal PT, and normal
platelet count.
General
Principles
Modifiable risk factors for sudden infant death syndrome include unsafe sleep environments, such as prone- or side-sleep positioning, soft/inclined sleep surfaces, crib bumpers, loose bedding, and bedsharing.
General
Principles
Airway foreign bodies are most common in toddlers due to mouthing behaviors, increased mobility, and small airway diameter. Anticipatory guidance includes avoidance of foods that can choke, including
hot dogs, peanuts, whole grapes, and raw vegetables, until age 4.
General
Principles
Children should remain in a rear-facing car seat as long as possible and transition to a forward-facing car seat only once they surpass the height or weight limit of their specific car seat, as determined by the
manufacturer. There is no absolute height, weight, or age that determines the transition.
General
Principles
Early recognition and treatment of depression can prevent suicide, a major cause of death in adolescents. Therefore, all adolescents age > 12 should be screened annually for depression.
General
Principles
Catch-up growth is a normal pattern of early, rapid growth in premature infants. Growth typically stabilizes by age 2, and management is reassurance and routine follow-up.
General
Principles
Hypotonia is a common finding in neonates with Down syndrome. Poor muscle tone and a weak suck are key findings. Additional features of Down syndrome in newborns include upslanting palpebral
fissures, a protruding tongue, and a single palmar crease.
General
Principles
Disorders of speech (e.g. delayed articulation) and language (e.g. receptive language delay) are often associated with hearing loss. The first step in management is a hearing test.
General
Principles
Healthy infants normally lose up to 7% of birth weight in the first 5 days of life. No treatment is required and exclusive breastfeeding should be continued. Birth weight should be regained by age 10-14 days.
General
Principles
Children age 9 months should be able to grasp objects, pull to stand, babble, say some words, and respond to their name. Some separation anxiety is developmentally normal at age 9-18 months. Delayed
verbal milestones should be assessed with an audiological evaluation.
General
Principles
By age 12 months, an infant’s weight triples and height increases by 50%. Developmental milestones include standing unassisted and learning to walk independently, using a 2-finger pincer grasp, saying 1
word other than ‘mama’ and ‘dada’, and following a 1-step command with a gesture.
General
Principles
A healthy 6-month-old infant should be able to sit momentarily on propped hands, transfer objects between hands, and respond to name. Stranger anxiety also develops around this age. Primitive Moro and
grasp reflexes disappear before 6 months, but Babinski is typically still present.
General
Principles
Intraosseous lines can be placed rapidly when emergency access is necessary and peripheral access cannot be obtained. Intraosseous access can be performed with less required skill and patience than
central venous access.
General
Principles
Epiglottitis is most commonly due to Haemophilus influenzae type b, and incompletely vaccinated individuals are at the highest risk. Manifestations include rapid onset of fever, sore throat, muffled voice,
drooling, and stridor.
General
Principles
Bedwetting is normal before age 5. Mastery of nighttime continence can take months to years, and boys generally achieve this milestone later than girls.
Gastrointes
tinal &
A vegan diet is characterized by abstinence from all animal-sourced products. Calcium, vitamin D, vitamin B12, and iron are commonly deficient in a vegan diet and may require supplementation.
Nutrition
Gastrointes
tinal &
Nutrition
Biliary cysts may be asymptomatic or present with abdominal pain, a right upper quadrant mass, and/or jaundice. All patients should undergo cyst resection to decrease the risk for malignancy (e.g.
cholangiocarcinoma, gallbladder cancer, pancreatic cancer).
Gastrointes
tinal &
Nutrition
Although all newborns have physiologic indirect hyperbilirubinemia, risk factors for severe hyperbilirubinemia include ABO incompatibility, cephalohematoma, prematurity, and jaundice at age < 24 hours.
Cephalohematoma can lead to jaundice to the release of unconjugated bilirubin from excessive red blood cell breakdown.
Gastrointes
tinal &
Nutrition
Although most neonates with congenital hypothyroidism are asymptomatic at birth, this disorder can be a rare cause of delayed (> 48 hr of life) passage of meconium. Supportive findings include
constipation, a large fontanelle, hypotonia, and poor feeding and growth. Diagnosis is confirmed with elevated TSH and low T4.
Gastrointes
tinal &
Nutrition
Infant dyschezia is a common, benign, and self-resolving functional disorder characterized by crying and straining prior to passing normal, soft stools. Alternative diagnoses of straining (e.g. functional
constipation, Hirschsprung disease) should be considered in an infant with hard stools, poor growth, delayed passage of meconium, or abnormal physical examination.
Gastrointes
tinal &
Nutrition
Although functional constipation is the most common cause of constipation in children, alarm signs such as poor growth, delayed passage of meconium, and abnormal physical findings (e.g. sacral
anomalies) should trigger evaluation for pathologic causes.
Gastrointes
tinal &
Nutrition
Food protein-induced allergic proctocolitis is a non-IgE-mediated reaction to a protein (typically cow’s milk or soy) that presents with bloody stools in well-appearing young infants.
Gastrointes
tinal &
Nutrition
Food protein-induced allergic proctocolitis should be suspected in a well-appearing infant with painless, bloody stools. Diagnosis is clinical, and management involves eliminating dairy from the maternal diet
(if breastfeeding) or switching to an extensively hydrolyzed formula.
Gastrointes
tinal &
Nutrition
Small bowel obstruction due to intestinal malrotation with midgut volvulus is a life-threatening surgical emergency. It should be suspected in any infant with acute abdominal distension, bilious emesis, and
hemodynamic instability. Complications include bowel necrosis and perforation.
Gastrointes
tinal &
Nutrition
Bilious emesis in a neonate with hemodynamic instability or peritoneal signs (e.g. rigid abdomen) warrants emergency exploratory laparotomy. Malrotation with midgut volvulus, which can cause intestinal
perforation and necrosis, should be considered in patients who also have a normal rectal examination and air-fluid levels on x-ray.
Gastrointes
tinal &
Nutrition
Intestinal malrotation is a common cause of bilious emesis in infants, particularly those with other associated congenital anomalies (e.g. omphalocele). Symptoms can occur due to duodenal obstruction or
midgut volvulus and may be acute in onset or chronic/intermittent.
Gastrointes
tinal &
Nutrition
Necrotizing enterocolitis is a life-threatening condition that causes feeding intolerance, abdominal distension, gastrointestinal bleeding, and pneumatosis intestinalis (air in bowel wall) in premature infants.
Initial management is bowel rest, in addition to blood cultures and empiric antibiotics.
Gastrointes
tinal &
Nutrition
Toxic megacolon can develop as a complication of infectious colitis (particularly with loperamide use) due to transmural inflammation and smooth muscle paralysis of the colon. Patients are typically illappearing with fever, abdominal distension, and colonic dilation on imaging.
Gastrointes
tinal &
Nutrition
Secondary lactase deficiency caused by intestinal epithelial damage (e.g. gastroenteritis, celiac disease) leads to carbohydrate (i.e. lactose) malabsorption and transient symptoms of diarrhea, crampy
abdominal pain, and bloating.
Gastrointes
tinal &
Nutrition
Hirschsprung disease typically presents in neonates with decreased stooling, increased rectal tone, and signs of intestinal obstruction (e.g. bilious emesis, abdominal distension, dilated bowel loops).
Contrast enema is performed to identify the level of obstruction.
Gastrointes
tinal &
Hirschsprung disease is characterized by an aganglionic colonic segment. A short affected segment can cause chronic refractory constipation and poor growth in young children, and expulsion of gas and
stool on rectal examination is classic. Evaluation includes a contrast enema, which reveals a transition zone between a distal, narrowed aganglionic segment and a proximally dilated colon.
Nutrition
Gastrointes
tinal &
Nutrition
Splenic rupture presents with acute abdominal pain, anemia, and shock due to intraperitoneal hemorrhage. Atraumatic rupture is a rare, potentially fatal complication of infectious mononucleosis, a viral
infection associated with splenomegaly.
Gastrointes
tinal &
Nutrition
Functional constipation in infants usually presents after introduction of solid foods (e.g. lower fiber, decreased fluids) and without alarm signs (e.g. poor growth, severe abdominal distension). Initial treatment
is with nondigestible osmotically active carbohydrates (e.g. fruit juice/puree).
Gastrointes
tinal &
Nutrition
Physiologic gastroesophageal reflux (i.e. spit-up) is common in the first 6 months of life and characterized by infants who are ‘happy spitters’ with normal weight gain and examination. Management is
reassurance, and continued breastfeeding with cholecalciferol (vitamin D) supplementation is encouraged.
Gastrointes
tinal &
Nutrition
A button battery lodged in the esophagus can cause tissue corrosion, necrosis, and life-threatening perforation. A circular object with a halo sign on chest x-ray is consistent with a button battery, and
management is immediate endoscopic removal.
Gastrointes
tinal &
Nutrition
Celiac disease is a chronic malabsorptive disorder caused by an immune-mediated hypersensitivity to gluten; patients with certain autoimmune diseases (e.g. type 1 diabetes, autoimmune thyroiditis) are at
particularly high risk. Pediatric patients often have growth delay, nonspecific gastrointestinal symptoms, and microcytic anemia. The diagnosis can be confirmed serologically with anti-tissue
transglutaminase antibodies or by duodenal biopsy.
Gastrointes
tinal &
Nutrition
Biliary atresia is characterized by progressive fibrosis and obliteration of extrahepatic bile ducts. It typically presents at age 2-8 weeks with jaundice, acholic stools, and direct hyperbilirubinemia. Diagnostic
evaluation of biliary anatomy begins with ultrasound of the right upper quadrant.
Gastrointes
tinal &
Nutrition
Biliary atresia is the fibrosis and obliteration of extrahepatic bile ducts. Bilirubin production and conjugation continue at a normal rate, but bilirubin cannot be excreted into the intestines (leading to pale
stools) and accumulates in the blood (causing direct hyperbilirubinemia and jaundice).
Gastrointes
tinal &
Nutrition
Vascular rings encircle the trachea and/or esophagus. Compression of the trachea may present with stridor; compression of the esophagus may present with dysphagia, vomiting, or recurrent food
impactions.
Gastrointes
tinal &
Nutrition
Although most cases of intussusception are idiopathic and occur in patients age 6-36 months, a pathologic lead point should be considered in those with recurrent intussusception or those outside the typical
age range. Meckel diverticulum (diagnosed by Meckel or 99m technetium pertechnetate scan) is the most common lead point.
Gastrointes
tinal &
Nutrition
Eosinophilic esophagitis presents with dysphagia, epigastric pain, vomiting, and food impaction. Endoscopy with eosinophils on esophageal biopsy is diagnostic.
Gastrointes
tinal &
Nutrition
Intussusception is an abdominal emergency. Affected patients have episodes of inconsolable crying, with legs drawn to the abdomen due to pain, followed by asymptomatic periods. Abdominal ultrasound is
diagnostic and reveals a target sign, which represents a bowel segment telescoping into another.
Gastrointes
tinal &
Nutrition
Giardia duodenalis disrupts the epithelial tight junctions between small intestinal enterocytes, leading to acute malabsorption (e.g. oily, nonbloody, foul-smelling diarrhea) typically lasting up to a month. Left
untreated, chronic giardiasis can result in severe weight loss and vitamin deficiencies.
Gastrointes
tinal &
Nutrition
Constipation is a common problem in toddlers due to transition to solid food and cow’s milk, toilet training, and school entry. In addition to dietary modification, laxative therapy (e.g. polyethylene glycol)
should be initiated promptly to soften stools.
Gastrointes
tinal &
Nutrition
The rotavirus vaccine effectively prevents most cases of rotavirus gastroenteritis. It is contraindicated in patients with a history of intussusception due to the small risk of this complication.
Gastrointes
tinal &
Gastroesophageal reflux is common in infants due to a shorter esophagus, incomplete closure of the lower esophageal sphincter, and greater time spent in the supine position. Parents should be reassured
Nutrition
by the infant’s adequate weight gain and be advised to hold the infant upright after feeds.
Gastrointes
tinal &
Nutrition
Moderate to severe dehydration in children should be treated with an intravenous bolus of isotonic fluid.
Gastrointes
tinal &
Nutrition
Jejunal atresia presents with bilious vomiting and abdominal distension. Abdominal x-ray reveals a triple bubble sign and gasless colon. Risk factors include prenatal exposure to cocaine and other
vasoconstrictive substances.
Gastrointes
tinal &
Nutrition
Colic is a diagnosis of exclusion characterized by crying for no apparent reason for > 3 hours a day for > 3 days a week in an otherwise healthy infant age < 3 months. Management includes reassurance
and review of soothing techniques.
Gastrointes
tinal &
Nutrition
Intussusception presents in children age 6-36 months with periodic abdominal pain. A target sign on ultrasound should prompt reduction with air or water-soluble contrast enema.
Gastrointes
tinal &
Nutrition
Niacin (vitamin B3) deficiency causes pellagra, which is characterized by diarrhea, a photosensitive dermatitis, and neurologic symptoms ranging from impaired concentration to dementia. Severe cases can
be fatal.
Gastrointes
tinal &
Nutrition
Meckel diverticulum often presents in young toddlers as painless lower gastrointestinal bleeding without abdominal pain, diarrhea, or vomiting. Diagnosis is with a technetium-99m pertechnetate scan, which
can identify ectopic gastric mucosa.
Gastrointes
tinal &
Nutrition
If bilirubin levels are below the phototherapy threshold, breastfeeding jaundice can be managed by optimizing lactation and increasing breastfeeding frequency. If the mother’s milk supply is inadequate,
supplementation with cow’s milk-based formula can be considered, but breastfeeding should not be discontinued.
Gastrointes
tinal &
Nutrition
Breastfeeding jaundice manifests as unconjugated hyperbilirubinemia and dehydration in the first week of life. Affected infants may also have decreased urine output and delayed stooling, which leads to
suboptimal bilirubin elimination and increased enterohepatic circulation of bilirubin.
Gastrointes
tinal &
Nutrition
Vitamin B2 (riboflavin) is a water-soluble vitamin that is present in meat, eggs, yeast, dairy products, green vegetables, and enriched foods. Riboflavin deficiency should be suspected in a malnourished
patient with angular cheilitis, stomatitis, glossitis, normocytic-normochromic anemia, and seborrheic dermatitis.
Gastrointes
tinal &
Nutrition
Gastroschisis is an abdominal wall defect lateral to the umbilical cord insertion site with herniation of uncovered bowel. Gastroschisis is an isolated defect with no associated conditions. Management
includes neonatal surgical correction.
Gastrointes
tinal &
Nutrition
Meconium ileus is due to inspissated meconium and classically presents with delayed passage of meconium, in addition to signs of intestinal obstruction with or without perforation at the level of the ileum.
Meconium ileus is virtually diagnostic for cystic fibrosis, which causes chronic sinopulmonary disease.
Gastrointes
tinal &
Nutrition
Biliary atresia is characterized by fibrosis of the extrahepatic bile duct and presents at age 2-8 weeks with direct hyperbilirubinemia (e.g. jaundice, acholic stools, dark urine) and hepatomegaly. Diagnosis is
with cholangiography, and treatment is hepatoportoenterostomy with or without liver transplant.
Gastrointes
tinal &
Nutrition
Failure to thrive and recurrent respiratory symptoms should raise concern for cystic fibrosis (CF). Pancreatic insufficiency occurs in CF and causes fat and protein malabsorption, resulting in steatorrhea,
vitamin deficiencies, and poor weight gain.
Gastrointes
tinal &
Nutrition
Beckwith-Wiedemann syndrome (BWS) is characterized by macrosomia, macroglossia, hemihyperplasia, umbilical hernia/omphalocele, and neonatal hypoglycemia. Because patients with BWS are at
increased risk of developing Wilms tumor and hepatoblastoma, abdominal ultrasound and α-fetoprotein level testing are recommended.
Gastrointes
tinal &
Infantile hypertrophic pyloric stenosis presents with projectile, nonbilious emesis and an olive-shaped abdominal mass. Prolonged vomiting causes a hypochloremic, hypokalemic metabolic alkalosis.
Nutrition
Treatment consists of intravenous rehydration and normalization of electrolytes prior to pyloromyotomy to decrease the risk of postoperative apnea.
Gastrointes
tinal &
Nutrition
When > 2 magnets are ingested and identified in the esophagus or stomach, immediate endoscopic removal is required, even in asymptomatic patients, to prevent bowel entrapment, necrosis, and
perforation.
Gastrointes
tinal &
Nutrition
Reye syndrome presents with vomiting, encephalopathy, hepatic dysfunction, and abnormal behavior leading to seizures and lethargy. Caregivers should avoid administering aspirin to children with viral
infection.
Gastrointes
tinal &
Nutrition
Infantile hypertrophic pyloric stenosis is most common in first-born boys age 3-5 weeks who are fed formula. Nonbilious, projectile vomiting causes dehydration and weight loss. Abdominal ultrasonography
confirms the diagnosis.
Gastrointes
tinal &
Nutrition
Biliary cysts are congenital or acquired dilatations of the biliary tree. They may be single or multiple, and extrahepatic or intrahepatic. Abdominal pain, jaundice, and a palpable mass are characteristic
findings. Biliary cysts require surgical excision.
Gastrointes
tinal &
Nutrition
Reye syndrome is a dangerous complication in children who receive aspirin for virus-induced fever. Hyperammonemia, transaminitis, coagulopathy, nausea, vomiting, hepatomegaly, and mental status
changes are typical manifestations of fulminant hepatic failure and encephalopathy.
Gastrointes
tinal &
Nutrition
Celiac disease results in small intestinal malabsorption and can present with weight loss and iron deficiency anemia. Common associations include type 1 diabetes and dermatitis herpetiformis.
Gastrointes
tinal &
Nutrition
The ingestion of a sharp foreign body is associated with a high risk of perforation and can be fatal. Endoscopic removal should be performed immediately when imaging confirms a sharp object in the
esophagus, stomach, or proximal duodenum.
Gastrointes
tinal &
Nutrition
Suspect vitamin A deficiency in a 2 or 3-year-old child with impaired adaptation to darkness, photophobia, dry scaly skin, xerosis conjunctiva, xerosis cornea, keratomalacia, Bitot spots and follicular
hyperkeratosis of the shoulders, buttocks, and extensor surfaces.
Gastrointes
tinal &
Nutrition
Full-term infants are born with adequate iron stores to prevent anemia for the first 4-6 months of life regardless of dietary intake. Preterm infants are at significantly increased risk for iron deficiency anemia.
Iron supplementation should be started at birth in exclusively breastfed preterm infants and continued until age 1 year. All exclusively breastfed infants should also be started on vitamin D supplementation.
Gastrointes
tinal &
Nutrition
Breastfed infants have a decreased risk of developing otitis media; respiratory, gastrointestinal, and urinary tract infections; and necrotizing enterocolitis. Breastfed infants also have lower rates of type 1
diabetes mellitus and childhood cancer. The only absolute infant contraindication to breastfeeding is galactosemia.
Gastrointes
tinal &
Nutrition
Physiologic jaundice of the newborn is a common, benign cause of indirect hyperbilirubinemia on days 2-4 of life. Mechanisms include increased bilirubin production, decreased bilirubin clearance, and
increased enterohepatic recycling.
Gastrointes
tinal &
Nutrition
Necrotizing enterocolitis should be suspected in newborns with temperature instability, feeding intolerance, abdominal distension, and bloody stools. Risk factors include prematurity, hypotension, and
congenital heart disease. The hallmark x-ray finding is air within the bowel wall (pneumatosis intestinalis).
Gastrointes
tinal &
Nutrition
Hirschsprung disease is due to failure of neural crest cell migration and presents with failure to pass meconium within 48 hours after birth. Characteristic findings include complete bowel obstruction (e.g.
abdominal distension, absent rectal air) and increased tone with release of stool on rectal examination.
Gastrointes
tinal &
Nutrition
Meconium ileus should be suspected in newborns with failure to pass meconium, in addition to bilious emesis and dilated loops of small bowel on imaging (i.e. terminal ileum obstruction). Most newborns
with meconium ileus have cystic fibrosis.
Gastrointes
tinal &
Malrotation with midgut volvulus usually presents in neonates with bilious vomiting and abdominal distension. Untreated volvulus can progress to frank bowel ischemia, bloody stools, and perforation. An
Nutrition
upper gastrointestinal contrast study is the gold standard for diagnosing malrotation.
Gastrointes
tinal &
Nutrition
Food protein-induced allergic proctocolitis should be suspected in a well-appearing infant with painless, bloody stools. Symptoms resolve by eliminating maternal consumption of dairy and soy products or
switching to a hydrolyzed formula.
Gastrointes
tinal &
Nutrition
Intussusception (i.e. telescoping bowel) is most common in children age 6-36 months and causes episodic abdominal pain, currant jelly stools, and lethargy. A palpable, sausage-shaped abdominal mass is
not always present.
Gastrointes
tinal &
Nutrition
Bilious emesis and abdominal distension in a preterm neonate are highly suggestive of necrotizing enterocolitis. Abdominal x-ray findings include pneumatosis intestinalis (intramural air) and portal venous
air.
Gastrointes
tinal &
Nutrition
In children, recurrent, self-limiting episodes of profuse vomiting and nausea without an apparent cause suggests cyclic vomiting syndrome. Key historical features include a history of identifiable triggers (e.g.
stress, infection) or a personal/family history of migraines.
Gastrointes
tinal &
Nutrition
Duodenal atresia is strongly associated with Down syndrome and presents with bilious vomiting in the first 2 days of life and a ‘double bubble’ sign on abdominal x-ray. Treatment is surgical repair.
Female
Reproducti
ve System
& Breast
Thelarche (typically the first sign of puberty) is normal in girls age > 8 and is characterized by firm, often tender, breast buds posterior to the nipple. Breast buds can be unilateral in the early stages of
puberty.
Female
Reproducti
ve System
& Breast
The adolescent well-child visit should include contraceptive counseling and discussion of safe sex practices. Contraceptive counseling is an opportunity to develop a trusting health care provider-patient
relationship and to decrease the rates of unintended pregnancies and sexually transmitted infections.
Female
Reproducti
ve System
& Breast
Von Willebrand disease is a common bleeding disorder that causes impaired platelet adhesion and is the most common cause of heavy, regular menses in adolescents. Platelet counts and PT are normal,
activated PTT may be normal or prolonged.
Female
Reproducti
ve System
& Breast
Primary amenorrhea is the absence of menarche by age > 15 in girls with secondary sexual characteristics (e.g. breast development) or age > 13 in girls without secondary sexual characteristics. The first
step in management is a pelvic ultrasound to evaluate the female reproductive tract.
Female
Reproducti
ve System
& Breast
Patients with Turner syndrome have primary amenorrhea and lack of breast development due to low estrogen levels associated with gonadal dysgenesis. Lack of feedback inhibition by estrogen on the
hypothalamic-pituitary-ovarian axis results in increased FSH and LH. An absent X chromosome on karyotype analysis is diagnostic.
Female
Reproducti
ve System
& Breast
Prepubertal girls with vaginal foreign bodies typically have malodorous vaginal discharge and vaginal spotting, commonly secondary to retained toilet paper. Initial management is topical anesthetic
application and either vaginal irrigation with warm fluid or removal with a swab.
Female
Reproducti
ve System
& Breast
In adolescents who have recently undergone menarche, the immature hypothalamic-pituitary-ovarian axis results in anovulation and causes abnormal uterine bleeding.
Female
Reproducti
ve System
Mammary gland enlargement, leukorrhea, and mild uterine bleeding are common, benign, and transient in newborns. These are physiologic responses to transplacental maternal estrogen exposure. No
work-up is indicated.
& Breast
Female
Reproducti
ve System
& Breast
Fibroadenoma is the most common cause of breast mass in an adolescent. An adolescent patient with a suspected fibroadenoma should be re-examined after her menstrual period for a decrease in mass
size or tenderness.
Female
Reproducti
ve System
& Breast
Patients with androgen insensitivity syndrome are genotypically male (46,XY) but appear phenotypically female. These patients are at increased risk of testicular cancer due to their bilateral cryptorchid
testes; therefore, management includes an elective gonadectomy.
Female
Reproducti
ve System
& Breast
Primary amenorrhea in patients with short stature and aortic coarctation is suggestive of Turner syndrome. Patients typically have ovarian dysgenesis (i.e. primary ovarian insufficiency), which results in low
estrogen levels. These low estrogen levels cause a lack of negative feedback on the hypothalamic-pituitary-ovarian axis, resulting in high FSH levels.
Female
Reproducti
ve System
& Breast
Müllerian agenesis, failure of Müllerian duct development, causes an absent uterus, cervix, and upper third of the vagina (i.e. blind vaginal pouch). Müllerian agenesis does not affect ovarian or external
genital development. Therefore, patients have primary amenorrhea with associated normal female external genitalia and secondary sexual characteristics.
Female
Reproducti
ve System
& Breast
Pubertal gynecomastia is common in adolescent boys during mid-puberty due to transiently increased estrogen. Breast tissue can be present unilaterally or bilaterally and is often tender. The condition
usually resolves within a year.
Female
Reproducti
ve System
& Breast
The most common cause of vaginal bleeding in the neonatal period is maternal withdrawal of estrogen. The bleeding is self-limited, and no treatment is required.
Female
Reproducti
ve System
& Breast
The levonorgestrel pill (i.e. Plan B) are a readily available and effective emergency contraception option that prevent pregnancy by delaying ovulation. In most states, adolescents seeking pregnancy
prevention options may receive confidential medical care without parental consent.
Female
Reproducti
ve System
& Breast
Ectopic pregnancy, which occurs when a developing blastocyst implants in an extrauterine location (e.g. fallopian tube), can present with nausea/vomiting, pelvic pain, and vaginal bleeding. Therefore, all
reproductive-age women with these symptoms require pregnancy testing.
Female
Reproducti
ve System
& Breast
Primary dysmenorrhea commonly occurs in adolescents after the establishment of ovulatory menstrual cycles. Excessive endometrial prostaglandin production results in lower abdominal cramping and other
associated symptoms (e.g. fatigue) during menses. Symptoms typically decrease with age.
Female
Reproducti
ve System
& Breast
In adolescents, the immature hypothalamic-pituitary-ovarian axis causes anovulation and can result in heavy, irregular menstrual bleeding. In hemodynamically stable patients, heavy vaginal bleeding is
managed with high-dose oral contraceptive therapy to stabilize the endometrium and stop the acute bleeding.
Female
Reproducti
ve System
& Breast
Primary amenorrhea is the absence of menarche in girls age > 13 with no secondary sexual characteristics. In patients with a uterus, the best next step is an FSH level test, which distinguishes between
central (low/normal FSH) and peripheral (high FSH) causes of amenorrhea.
Endocrine,
Diabetes &
Gynecomastia with abnormal features (e.g. rapid progression, large size, occurrence outside pubertal age range) should include laboratory evaluation to assess for a pathologic cause. An increased β-hCG
level in this setting is concerning for an hCG-secreting tumor, and a testicular ultrasound should be obtained.
Metabolism
Endocrine,
Diabetes &
Metabolism
Short stature (height < 2nd percentile) with a declining linear growth velocity is usually pathologic. Additional findings of delayed puberty and delayed bone age in the absence of other abnormal examination
findings is suggestive of an endocrine disorder, such as hypothyroidism.
Endocrine,
Diabetes &
Metabolism
The differential diagnosis for polyuria and dilute urine includes central or nephrogenic diabetes insipidus (DI) or primary polydipsia. The water deprivation test can differentiate between DI and primary
polydipsia. Following water deprivation, urine osmolality remains unchanged in DI but increases in primary polydipsia.
Endocrine,
Diabetes &
Metabolism
Galactosemia is characterized by the inability to metabolize galactose (found in breast and cow’s milk) to glucose, resulting in galactose accumulation and hypoglycemia. Patients may have vomiting,
jaundice, hepatomegaly, and Escherichia coli sepsis. Hyperbilirubinemia may be conjugated (i.e. liver dysfunction) and/or unconjugated (i.e. hemolytic anemia).
Endocrine,
Diabetes &
Metabolism
The incidence of type 2 diabetes in adolescents and young adults is increasing in association with a rise in childhood obesity. Excess adiposity contributes to insulin resistance, which is aggravated by
increasing growth hormone levels at puberty. Other findings seen with insulin resistance include acanthosis nigricans, central obesity, elevated blood pressure, and lipid abnormalities.
Endocrine,
Diabetes &
Metabolism
Exercise increases glucose uptake by skeletal muscle cells. Patients with type 1 diabetes taking a basal-bolus insulin regimen should decrease pre-meal bolus insulin prior to exercise; for prolonged
exercise, basal insulin should be decreased as well. Patients with diabetes who initiate a strenuous exercise regimen should also be counseled to increase carbohydrate intake, particularly if training
sessions are > 60 minutes in duration.
Endocrine,
Diabetes &
Metabolism
Nutritional rickets classically occurs in exclusively breastfed infants without vitamin D supplementation. Presentation includes craniotabes (soft skull bones) and forearm deformities (widened wrists,
radial/ulnar bowing). Lower extremity bowing occurs once patients are weight-bearing.
Endocrine,
Diabetes &
Metabolism
Galactosemia is an inborn error of metabolism that presents in the first week of life with vomiting, jaundice, hypotonia, and hepatomegaly. Progressive deposition of galactitol, a by-product of galactose,
leads to cataracts. Management is a galactose-free diet (e.g. soy-based formula).
Endocrine,
Diabetes &
Metabolism
Classic congenital adrenal hyperplasia occurs due to 21-hydroxylase deficiency, which leads to the buildup of 17-hydroxyprogesterone and testosterone. Genotypically female newborns (46,XX) have
virilized genitalia (e.g. underdeveloped phallus) and nonpalpable gonads. Electrolyte abnormalities do not develop until age 1-2 weeks.
Endocrine,
Diabetes &
Metabolism
Precocious puberty is the onset of secondary sexual characteristics before age 8 in girls and age 9 in boys. Initial evaluation includes obtaining a bone age evaluation to assess skeletal maturation.
Endocrine,
Diabetes &
Metabolism
Gaucher disease is a lysosomal storage disease with the accumulation of glucocerebroside in macrophages of the bone, liver, and spleen; this accumulation results in cytopenias, bone pain, failure to thrive,
and hepatosplenomegaly. Presentation ranges from mild to severe, and diagnosis can occur at any age.
Endocrine,
Diabetes &
Metabolism
Fetal hyperglycemia during the first trimester is associated with malformations; fetal hyperglycemia after the first trimester is associated with perinatal complications such as macrosomia, birth injury, and
hypoglycemia. Neonatal hypoglycemia is the most common complication among infants of diabetic mothers.
Endocrine,
Diabetes &
Metabolism
Refeeding syndrome is a potentially fatal complication of nutritional rehabilitation in anorexia nervosa. Carbohydrate intake stimulates insulin activity, which in turn promotes cellular uptake of phosphorus,
potassium, and magnesium, leading to electrolyte deficiency. Cardiac manifestations include arrhythmias and congestive heart failure. Other common complications involve the muscular (e.g. weakness,
rhabdomyolysis), gastrointestinal (e.g. diarrhea, elevated transaminases), and neurologic (e.g. tremor, seizure) systems.
Endocrine,
Diabetes &
Metabolism
Constitutional growth delay is characterized by short stature (height at the < 2nd percentile) and normal linear growth velocity after age 3. Puberty and bone age are delayed, and adult height is typically
normal.
Endocrine,
Diabetes &
Metabolism
Diabetic ketoacidosis (DKA) presents with polyuria, abdominal pain, and fatigue and is often precipitated by infection. Laboratory results demonstrate hyperglycemia and an anion gap metabolic acidosis.
DKA is characterized by an osmotic diuresis that reduces total body potassium even though serum potassium may be normal or elevated.
Endocrine,
Diabetes &
Non-classic congenital adrenal hyperplasia is a cause of gonadotropin-independent precocious puberty. Patients can have premature secondary sexual characteristics (e.g. pubic hair, cystic acne),
Metabolism
accelerated growth and bone age, and low/normal LH levels.
Endocrine,
Diabetes &
Metabolism
Central (gonadotropin-dependent) precocious puberty (PP) is characterized by premature breast and pubic/axillary hair development, advanced bone age, and an elevated LH level. Patients with central PP
require an MRI of the brain to evaluate for a tumor prior to starting GnRH agonist therapy.
Endocrine,
Diabetes &
Metabolism
Precocious puberty, the onset of secondary sexual characteristics in girls age < 8 and boys age < 9, has both central and peripheral causes. Central precocious puberty is due to early activation of the
hypothalamic-pituitary-gonadal axis and presents with increased levels of FSH and LH.
Endocrine,
Diabetes &
Metabolism
Premature adrenarche is caused by early activation of adrenal androgens and is more common in obese children. Typical presentation includes precocious development of pubic and axillary hair, acne, and
body odor in a child with a normal bone age.
Endocrine,
Diabetes &
Metabolism
Congenital hypothyroidism is associated with neurodevelopmental injury if not recognized and treated early. Decreased activity, hoarse cry, and jaundice are commonly associated with congenital
hypothyroidism, but the majority of infants with congenital hypothyroidism are asymptomatic. Thyroid dysgenesis is the most common cause of congenital hypothyroidism worldwide.
Endocrine,
Diabetes &
Metabolism
Infants with congenital hypothyroidism initially appear normal at birth, but gradually develop apathy, weakness, hypotonia, large tongue, sluggish movement, abdominal bloating, and an umbilical hernia. For
this reason, screening newborns for hypothyroidism, along with phenylketonuria and galactosemia, is standardly performed in all states.
Endocrine,
Diabetes &
Metabolism
Deficiency of 21-hydroxylase is the most common cause of congenital adrenal hyperplasia and classically presents with dehydration, salt-wasting, and virilization. Elevated 17-hydroxyprogesterone levels
are diagnostic.
Endocrine,
Diabetes &
Metabolism
Glucose-6-phosphatase deficiency (type I glycogen storage disease, von Gierke disease) presents at age 3-4 months with hypoglycemia (often with seizures), lactic acidosis, hyperuricemia, and
hyperlipidemia. Patients typically have a doll-like face, thin extremities, short stature, and a protuberant abdomen (due to hepatomegaly).
Endocrine,
Diabetes &
Metabolism
Phenylketonuria is caused by a deficiency of phenylalanine hydroxylase, which results in the buildup of phenylalanine and its neurotoxic metabolites. Clinical features include intellectual disability, fair
complexion, eczema, and a musty or ‘mousy’ body odor. Infants diagnosed early through newborn screening and treated with low-phenylalanine diets can expect normal health and development.
Endocrine,
Diabetes &
Metabolism
Craniopharyngiomas are benign, slow-growing tumors found in the suprasellar region and typically appear calcified on neuroimaging. Presenting symptoms include bitemporal hemianopsia and signs of
pituitary hormone deficiencies (e.g. diabetes insipidus, growth failure).
Ear, Nose
& Throat
(ENT)
Chronic suppurative otitis media is often preceded by an episode of acute otitis media and is defined as chronic (> 6 weeks), purulent otorrhea with tympanic membrane perforation. Treatment is an
ototopical fluoroquinolone to target the most common pathogens, Staphylococcus aureus and Pseudomonas aeruginosa.
Ear, Nose
& Throat
(ENT)
Tracheoesophageal fistula (TEF) with esophageal atresia (EA) presents shortly after birth with choking or coughing during feeding. Diagnosis is confirmed by resistance of nasogastric tube advancement
beyond the proximal esophagus. Because TEF with EA often occurs with VACTERL association (vertebral, anal, cardiac, tracheoesophageal, renal, and/or limb anomalies), all patients who have TEF with
EA should undergo screening echocardiography and renal ultrasonography.
Ear, Nose
& Throat
(ENT)
The eustachian tubes serve to equalize pressure and drain the middle ear through physiologic opening and closing. Inflammation can cause obstruction and symptoms of eustachian tube dysfunction,
including ear fullness/discomfort, hearing loss, and tinnitus. Examination reveals tympanic membrane retraction.
Ear, Nose
& Throat
(ENT)
Otitis media with effusion (OME) is defined by middle ear fluid without tympanic membrane (TM) inflammation (e.g. bulging, erythema). Examination shows air-fluid levels and poor TM mobility. Management
is observation with follow-up for resolution because chronic OME is associated with speech delay and long-term hearing loss.
Ear, Nose
& Throat
(ENT)
Congenital cytomegalovirus infection is the most common cause of nonhereditary sensorineural hearing loss in children. The infection is frequently asymptomatic in infants but can cause progressive or
delayed-onset, unilateral or bilateral hearing loss later in childhood.
Ear, Nose
& Throat
In children, a midline, cystic neck mass that moves with swallowing is likely a thyroglossal duct cyst. A thyroglossal duct cyst forms from retained epithelium from the embryologic descent of the thyroid
(ENT)
gland.
Ear, Nose
& Throat
(ENT)
Unilateral, purulent rhinorrhea in a young child is often due to a retained intranasal foreign body.
Ear, Nose
& Throat
(ENT)
Vertical transmission of human papillomavirus subtypes 6 and 11 can cause recurrent respiratory papillomatosis, which results in hoarseness due to finger-shaped growths on the true vocal cords.
Ear, Nose
& Throat
(ENT)
Choanal atresia is a congenital obstruction of the posterior nasopharynx. Because neonates are obligate nasal breathers, bilateral choanal atresia presents with cyanosis that worsens during feeding and
improves when crying. The diagnosis is supported if a small catheter cannot be passed from the nares into the oropharynx.
Ear, Nose
& Throat
(ENT)
Acute rhinosinusitis presents with upper respiratory symptoms (e.g. rhinorrhea, congestion, cough) and facial pain/pressure, with or without fever. Viral rhinosinusitis is more likely than bacterial rhinosinusitis
in patients who are afebrile with mild symptoms that improve within 10 days. Treatment is supportive care (e.g. nasal saline/irrigation).
Ear, Nose
& Throat
(ENT)
Laryngomalacia presents with inspiratory stridor due to dynamic collapse of the supraglottic tissues on inspiration. Stridor increases in periods of increased airflow (e.g. crying, feeding).
Ear, Nose
& Throat
(ENT)
Laryngomalacia is the most common cause of stridor in infants and is due to collapse of the supraglottic tissues during inspiration. Stridor increases with exertion (e.g. crying, feeding) and improves with
prone positioning.
Ear, Nose
& Throat
(ENT)
Otitis externa (‘swimmer’s ear’) is a painful infection of the external auditory canal. It often occurs after outdoor water exposure due to alterations in ear canal pH, loss of cerumen, skin maceration, and
introduction of bacteria. Pseudomonas aeruginosa is the most common pathogen.
Ear, Nose
& Throat
(ENT)
Otitis externa (‘swimmer’s ear’) is characterized by pain, erythema, and edema of the external auditory canal. It frequently occurs after water exposure or trauma to the canal. Topical antipseudomonal
treatment is appropriate unless complicated by diabetes mellitus, HIV, or infection that has spread beyond the external auditory canal.
Ear, Nose
& Throat
(ENT)
After securing the airway in patients with epiglottitis, initial treatment consists of broad-spectrum antibiotic therapy with ceftriaxone (targeting Haemophilus influenzae and Streptococcus species) and
vancomycin (targeting Staphylococcus aureus).
Ear, Nose
& Throat
(ENT)
Epiglottitis is a rare but potentially fatal infection that presents with acute onset of fever, sore throat, and signs of upper airway obstruction (e.g. stridor, drooling). Plain x-rays may help confirm the diagnosis
by revealing an enlarged epiglottis (thumb sign).
Ear, Nose
& Throat
(ENT)
Cholesteatomas result from the accumulation of keratin debris and squamous epithelial cells within a tympanic membrane retraction pocket. Symptoms include persistent otorrhea and conductive hearing
loss, and examination often reveals a pearly white mass behind an intact tympanic membrane.
Ear, Nose
& Throat
(ENT)
Repeated ear infections can result in conductive hearing loss, which may be confused with certain pervasive and behavioral disorders of childhood. Hearing tests should be routinely conducted in all children
presenting with social or language deficits.
Ear, Nose
& Throat
(ENT)
Oral antibiotics for acute otitis media should be administered to children with high fever, severe pain, or bilateral disease. Amoxicillin is first-line therapy, and amoxicillin-clavulanate is indicated for persistent
or recurrent infection.
Ear, Nose
& Throat
(ENT)
Choanal atresia should be suspected in an otherwise well-appearing newborn with cyanosis worsened by feeding and relieved by crying. Failure to pass a catheter through the nares into the oropharynx is
suggestive of the diagnosis.
Ear, Nose
& Throat
Acute bacterial rhinosinusitis is distinguished from a viral upper respiratory infection by the presence of severe, persistent, or worsening symptoms (e.g. cough, nasal discharge). Treatment is with oral
(ENT)
antibiotics.
Ear, Nose
& Throat
(ENT)
Otitis externa (‘swimmer’s ear’) is characterized by pain, erythema, edema, and discharge; it frequently occurs after swimming. Loss of cerumen, trauma, and foreign materials in the ear canal can increase
the risk. The most common pathogen is Pseudomonas aeruginosa.
Ear, Nose
& Throat
(ENT)
Peritonsillar abscess is characterized by fever, pharyngeal pain, and earache. Examination findings include trismus, muffled voice, and swelling of peritonsillar tissues with deviation of the uvula. Treatment
involves needle aspiration or incision and drainage plus antibiotic therapy.
Ear, Nose
& Throat
(ENT)
Acute mastoiditis is a complication of acute otitis media. It is characterized by fever, otalgia, and mastoid process inflammation with displacement of the auricle.
Ear, Nose
& Throat
(ENT)
Cholesteatomas in children can either be congenital or acquired secondary to chronic middle ear disease. New-onset hearing loss or chronic ear drainage despite antibiotic therapy are typical presenting
symptoms of cholesteatomas, and granulation tissue and skin debris may be seen within retraction pockets of the tympanic membrane on otoscopy.
Ear, Nose
& Throat
(ENT)
Acute otitis media, a common cause of otalgia in young children, is characterized by middle ear inflammation (e.g. tympanic membrane [TM] bulging +/- erythema) and effusion (e.g. poor TM mobility).
Ear, Nose
& Throat
(ENT)
Laryngomalacia presents in infants with inspiratory stridor that worsens in the supine position and improves in the prone position. Laryngoscopy shows collapse of the supraglottic structures during
inspiration. Concurrent gastroesophageal reflux should be treated. Laryngomalacia usually resolves spontaneously by age 18 months.
Ear, Nose
& Throat
(ENT)
Epiglottitis presents with abrupt onset of fever, dysphagia, drooling, and respiratory distress. Signs of impending airway obstruction include anxiety and tripod positioning (i.e. upright/forward positioning with
neck hyperextension).
Dermatolog
y
Miliaria rubra is a fine, erythematous, papular eruption that classically develops in infants exposed to hot or humid environments and affects the intertriginous areas or areas under occlusion. Management
involves avoidance of overheating by use of thin, cotton clothing and placement in a cool environment when possible.
Dermatolog
y
Neonatal cephalic pustulosis presents with erythematous papules and pustules limited to the face and scalp around age 3 weeks. Management is typically limited to daily cleansing with gentle soap and
water, and self-resolution without scarring is expected within weeks to months.
Dermatolog
y
Hypertrichosis is an androgen-independent condition characterized by excessive vellus (fine, nonpigmented) hair over the entire body. Conversely, hirsutism is hormonally controlled terminal/secondary (i.e.
course, dark) hair in androgen-specific locations on the body.
Dermatolog
y
Atopic dermatitis typically has an onset before age 5 and follows a chronic course with periodic flares (i.e. pruritic, erythematous patches in flexural distribution). It typically resolves before adolescence.
Dermatolog
y
The pathogenesis of atopic dermatitis involves skin barrier dysfunction as well as a Th2-skewed immune response. Protective factors that may decrease the risk for developing atopic dermatitis shift the
adaptive immune response away from a Th2 predominance and include early exposure to microorganisms (e.g. day care, dogs).
Dermatolog
y
Atopic dermatitis often has infectious complications (e.g. impetigo) that should be considered when standard therapy (e.g. topical corticosteroids) for a flare is effective. Impetigo classically presents with
golden crusts, weeping, or purulence, and treatment involves topical mupirocin or oral antibiotics.
Dermatolog
y
Although most infantile hemangiomas require no treatment, a segmental, facial hemangioma should be treated with oral propranolol due to an increased risk for ulceration and scarring. These patients
should also undergo screening echocardiography and MRI of the head to assess for PHACE (posterior fossa malformations; hemangiomas; arterial, cardiac, and eye anomalies) syndrome.
Dermatolog
y
Alopecia areata is characterized by patchy, painless hair loss with no erythema, scaling, or scarring. It is an autoimmune disorder and is often associated with other autoimmune conditions (e.g. autoimmune
thyroid disease). Treatment includes topical or intralesional corticosteroids. A recurring course is common, but most patients have regrowth over time.
Dermatolog
y
Bedbug bites present as small, pruritic, erythematous papules, often arranged in a linear pattern on exposed areas and each with a central hemorrhagic punctum. Management of bites is supportive, but
definitive treatment requires eradication of the bugs.
Dermatolog
Keratosis pilaris is characterized by retained keratin plugs in the hair follicles. It occurs most commonly on the posterior surface of the upper arm and manifests as small, painless papules; a roughened skin
y
texture; and mottled, perifollicular erythema. Exacerbations are common in cold, dry weather. Treatment includes emollients and topical keratolytics (e.g. salicylic acid, urea).
Dermatolog
y
Tinea pedis most commonly presents with a pruritic rash between the toes. The diagnosis is usually made clinically but can be confirmed with a potassium hydroxide preparation of skin scrapings. A variety
of topical antifungal agents (e.g. miconazole, terbinafine, tolnaftate) is effective for treatment, but nystatin is not effective.
Dermatolog
y
Bullous impetigo presents with enlarging, yellow fluid-filled, flaccid bullae that leave a collarette of scale after rupture. This condition is caused by Staphylococcus aureus, and treatment is with oral
antibiotics.
Dermatolog
y
Candidal diaper dermatitis should be suspected in an infant with a diaper rash that is worsening despite use of a topical barrier ointment. Classic appearance includes coalescing, beefy-red plaques, and
treatment is with a topical antifungal cream.
Dermatolog
y
Irritant contact diaper dermatitis is common in infants and characterized by erythema that is confined to the area in contact with the diaper and spares skinfolds. Diagnosis is clinical, and treatment is with a
barrier ointment or paste.
Dermatolog
y
Pityriasis rosea is a self-limited exanthem that classically begins with a solitary, large herald patch followed by clusters of smaller oval lesions oriented in a ‘Christmas tree’ pattern. Management is
reassurance alone, although symptomatic relief of pruritus (e.g. antihistamines, topical corticosteroids) may be indicated.
Dermatolog
y
Streptococcal perianal dermatitis presents in young children as an erythematous, sharply demarcated perianal rash associated with pruritus and pain. Treatment is with β-lactam antibiotics.
Dermatolog
y
Tinea versicolor is a common skin eruption characterized by light macules on the trunk and upper extremities in adults. In children, the eruption typically involves the face. It is most noticeable after sun
exposure as the surrounding skin becomes darker.
Dermatolog
y
Scabies is an intensely pruritic rash characterized by small erythematous papules and burrows in the axillae, periumbilical area, genitalia, and interdigital web spaces. First-line treatment is topical 5%
permethrin or oral ivermectin.
Dermatolog
y
A congenital melanocytic nevus presents within the first few months of life as isolated hyperpigmented patches with an increased density of hair follicles.
Dermatolog
y
Child abuse in the form of deliberate scald injuries is characterized by burns with sharp lines of demarcation, uniform depth, lack of splash marks, and spared flexural creases.
Dermatolog
y
Tinea capitis is a superficial dermatophytosis that most commonly occurs in children and immunocompromised patients. It causes a scaly, erythematous patch that can progress to alopecia with
inflammation, lymphadenopathy, and scarring. Oral griseofulvin or terbinafine are the preferred initial treatment options.
Dermatolog
y
Henoch-Schönlein purpura is an IgA-mediated vasculitis that presents with palpable purpura on the lower extremities, arthralgia/arthritis, abdominal pain, and renal disease. Hematuria is the most common
renal manifestation.
Dermatolog
y
Seborrheic dermatitis in infants is characterized by a scaly, oily rash affecting the scalp, eyelids, nasolabial folds, postauricular area, and umbilicus. Spontaneous remission is common. First-line treatment
options include emollients and non-medicated shampoos.
Dermatolog
y
Tinea corporis is a superficial fungal infection characterized by pruritic, scaly, erythematous plaques with a raised border and central clearing. The diagnosis is usually apparent on inspection and can be
confirmed with potassium hydroxide examination of skin scrapings. Topical antifungals (e.g. clotrimazole, terbinafine) are first-line treatment.
Dermatolog
y
Superficial infantile hemangiomas are benign capillary tumors of childhood. They typically appear during the first weeks of life, initially grow rapidly, and regress spontaneously. Complicated lesions may
require treatment with β blockers.
Dermatolog
y
Sun avoidance is the best form of photoprotection. Sunscreen with sun protection factor > 30 should be applied 15-30 minutes prior to sun exposure and reapplied every 2 hours as well as immediately after
swimming.
Dermatolog
y
Eczema herpeticum is a primary herpes simplex virus infection associated with atopic dermatitis. Painful vesicles, ‘punched-out’ erosions, and hemorrhagic crusting along with fever and lymphadenopathy
are typical.
Dermatolog
y
Congenital dermal melanocytosis is commonly found in African, Asian, and Hispanic infants and presents as gray-blue macules, most commonly on the sacrum and buttocks. The spots usually fade
spontaneously during childhood.
Dermatolog
y
Erythema toxicum neonatorum is a benign neonatal rash characterized by blanching erythematous papules and pustules. It resolves spontaneously within 2 weeks of birth.
Dermatolog
y
Staphylococcal scalded skin syndrome is caused by exfoliative toxin-producing strains of Staphylococcus aureus and typically occurs in infants and young children. A prodrome of fever, irritability, and skin
tenderness is followed by generalized erythema, superficial flaccid blisters, and epidermal shedding with light pressure (i.e. Nikolsky sign).
Dermatolog
y
Atopic dermatitis in infants presents with pruritus, and scaly erythematous lesions on the face, chest, and extensor surfaces of the extremities. Flexural involvement is common in children and adults. Topical
emollients are the first-line treatment.
Dermatolog
y
Allergic contact dermatitis is caused by T cell-mediated (delayed, type IV) hypersensitivity and presents with erythema, edema, and vesicles > 12 hours after contact with the allergen (e.g. poison ivy, nickel).
Cardiovasc
ular
System
Syncope in children is usually benign but can be a warning sign of serious cardiac disease that may cause sudden cardiac death. ECG should be performed on all pediatric patients with syncope to evaluate
for cardiac arrhythmia or underlying conduction disturbances.
Cardiovasc
ular
System
Cardiac workup should be performed in children with alarm features for cardiac syncope. These include preceding chest pain or palpitations, absence of a vasovagal prodrome, occurrence with exercise,
known or suspected structural heart disease, and family history of early sudden death.
Cardiovasc
ular
System
Psychogenic pseudosyncope is a type of conversion disorder characterized by apparent loss of consciousness without impaired cerebral perfusion. Prolonged duration of unconsciousness, absence of
objective physical findings, and high frequency of attacks are common.
Cardiovasc
ular
System
Transient hypertrophic cardiomyopathy may be seen in infants of diabetic mothers due to myocardial fat and glycogen deposition. Left ventricular outflow tract obstruction causes a systolic ejection murmur
with or without hypotension and respiratory distress. Characteristic echocardiographic findings of a thickened interventricular septum spontaneously regress by age 1 due to normalization of insulin levels.
Cardiovasc
ular
System
Antibiotic prophylaxis for endocarditis in patients with congenital heart disease (CHD) is indicated prior to dental procedures in patients with any of the following high-risk conditions: unrepaired cyanotic
CHD, repaired CHD with residual defect, or CHD repaired with prosthetic material within the past 6 months.
Cardiovasc
ular
System
Infants of diabetic mothers are at increased risk for transient hypertrophic cardiomyopathy with dynamic left ventricular outflow tract obstruction (LVOT). Management includes β blockers (e.g. propranolol),
which reduce LVOT obstruction by increasing LV filling time and end-diastolic volume (due to reduction in heart rate) and decreasing the pressure gradient between the LVOT and aorta (due to reduction in
contractility).
Cardiovasc
ular
System
Severe aortic coarctation, which increases left ventricular afterload, can present in the neonatal period with congestive heart failure (e.g. respiratory distress, poor feeding) and cardiogenic shock upon
closure of the ductus arteriosus.
Cardiovasc
ular
System
A ventricular septal defect causes a holosystolic murmur at the left sternal border due to left-to-right intracardiac shunting. Right ventricular volume overload leads to increased left atrial preload and
enlargement of both the right ventricle and left-sided chambers. Chest x-ray typically reveals an enlarged left heart contour.
Cardiovasc
ular
System
Persistent pulmonary hypertension of the newborn can be caused by conditions that injure the lungs such as meconium aspiration syndrome. Treatment of pulmonary hypertension includes oxygenation,
ventilation, and the use of pulmonary vasodilators such as inhaled nitric oxide.
Cardiovasc
ular
System
Persistent pulmonary hypertension of the newborn is characterized by abnormal persistence of elevated pulmonary vascular resistance, causing right-to-left shunting across a patent ductus arteriosus.
Patients have a low postductal saturation compared to the preductal saturation and normal distal pulses.
Cardiovasc
ular
System
Ventricular septal defects (VSDs) cause left-to-right shunting that leads to volume overload of the right ventricle, increased pulmonary circulation, and volume overload of the left side of the heart. In infants,
VSDs may present with tachypnea, tachycardia, and poor feeding due to high-output heart failure and pulmonary overcirculation.
Cardiovasc
Aortic coarctation can present with acute heart failure and cardiogenic shock upon closure of the ductus arteriosus. Administration of prostaglandin E1 maintains ductal patency, which restores systemic
ular
System
blood flow by shunting blood from the pulmonary artery to the aorta (right-to-left).
Cardiovasc
ular
System
Routine newborn care includes screening for critical congenital heart disease (e.g. ductal-dependent lesions, cyanotic heart disease) with pre- and post-ductal pulse oximetry in all infants.
Cardiovasc
ular
System
A patent ductus arteriosus (PDA) is associated with a continuous flow murmur due to constant movement of blood from the high-pressure aorta to the low-pressure pulmonary artery. Small PDAs are often
asymptomatic and detected incidentally on routine cardiac auscultation.
Cardiovasc
ular
System
Myocarditis is most commonly caused, in children, by viral infection and typically presents following a viral prodrome with signs of heart failure (e.g. respiratory distress, murmur, cardiomegaly,
hepatomegaly).
Cardiovasc
ular
System
The degree of right ventricular outflow tract obstruction can fluctuate in tetralogy of Fallot. Patients with mild obstruction can develop a dramatic spasm resulting in hypercyanotic, hypoxic, or ‘tet’ spells.
Placement of patients in a knee-chest position during a hypercyanotic spell increases systemic vascular resistance, increases pulmonary blood flow, and improves hypoxemia.
Cardiovasc
ular
System
Pericardial effusion can occur after cardiac surgery and typically presents with distant, ‘muffled’ heart sounds and signs of decreased cardiac output (e.g. tachycardia, tachypnea). An enlarged cardiac
silhouette on chest x-ray is characteristic.
Cardiovasc
ular
System
Large ventricular septal defects cause growth failure, easy fatigability, and heart failure. They classically produce a holosystolic murmur that is loudest at the left lower sternal border and an apical diastolic
rumble due to increased blood flow across the mitral valve.
Cardiovasc
ular
System
As the patent ductus arteriosus closes, ductal-dependent congenital heart disease presents with cyanosis if pulmonary blood flow is obstructed or hypotension if systemic blood flow is obstructed.
Prostaglandin E1 maintains the patency of the ductus arteriosus and is life-saving in infants with ductal-dependent congenital heart disease.
Cardiovasc
ular
System
Vascular rings are congenital malformations of the great vessels that encircle and compress the trachea and/or esophagus. Respiratory symptoms may include biphasic stridor that improves with neck
extension. Esophageal symptoms include dysphagia, vomiting, and difficulty feeding.
Cardiovasc
ular
System
Transposition of the great vessels is a congenital cyanotic heart defect that typically presents within the first 24 hours of life with cyanosis and a single loud S2.
Cardiovasc
ular
System
The classic ventricular septal defect murmur is a harsh, holosystolic murmur best heard at the left lower sternal border. Echocardiography should be performed to determine the location and size of the
defect and to rule out other defects. Most small ventricular septal defects close spontaneously and require no treatment.
Cardiovasc
ular
System
Patients with congenital long QT syndrome are at risk for polymorphic ventricular tachycardia that leads to syncope or sudden cardiac death, especially during periods of rapid heart rate and high
sympathetic activity. β blockers (e.g. propranolol, nadolol) dampen sympathetic activity and shorten the QT interval at high heart rates to reduce the risk of these complications.
Cardiovasc
ular
System
Innocent cardiac murmurs result from normal blood flow from a structurally normal heart. The intensity is typically grade I or II and decreases with standing. Benign murmurs are also early or mid-systolic in
timing. Management consists of observation and reassurance.
Cardiovasc
ular
System
Newborns with DiGeorge syndrome (22q11.2 microdeletion syndrome) classically have conotruncal cardiac defects (e.g. transposition of the great arteries, truncus arteriosus) and an absent thymus.
Patients are at risk for potentially life-threatening hypocalcemia due to parathyroid hypoplasia.
Cardiovasc
ular
System
Patients with Turner syndrome are at increased risk for cardiovascular abnormalities and should undergo cardiac evaluation (e.g. echocardiography, 4-extremity blood pressures) to evaluate for bicuspid
aortic valve, coarctation of the aorta, and aortic root dilation.
Cardiovasc
ular
Tetralogy of Fallot can present with hypercyanotic ‘tet’ spells due to right ventricular outflow tract (RVOT) obstruction and right-to-left shunting in the setting of exertion or agitation. Squatting increases
System
afterload, which increases blood flow across the RVOT, which in turn improves cyanosis.
Cardiovasc
ular
System
Complete atrioventricular septal defect is the most common heart defect in Down syndrome. Clinical features can include heart failure in early infancy, a fixed split S2, and a systolic ejection murmur due to
increased pulmonary flow from the atrial septal defect.
Cardiovasc
ular
System
Kawasaki disease is characterized by > 5 days of fever and > 4 of the following: nonexudative conjunctivitis, mucositis (e.g. ‘strawberry tongue’), rash, extremity changes, and cervical lymphadenopathy.
Echocardiogram is indicated for all patients at diagnosis to assess for coronary artery aneurysms.
Cardiovasc
ular
System
Patients with a history of acute rheumatic fever are at risk of progressive rheumatic heart disease from recurrent group A Streptococcus pharyngitis. Treatment with penicillin prophylaxis prevents
streptococcal infections and limits the progression of heart disease.
Cardiovasc
ular
System
In patients with hypertrophic cardiomyopathy (HCM), maneuvers that increase preload or afterload (e.g. squatting, leg raise, hand grip) increase left ventricular (LV) cavity size and decrease outflow
obstruction, thereby decreasing the intensity of the murmur. Maneuvers that decrease LV cavity size by decreasing preload (e.g. Valsalva, abrupt standing, amyl nitrite administration) cause worsening of LV
outflow tract obstruction and increase the intensity of the murmur.
Cardiovasc
ular
System
Adolescents with a family history of sudden death in a young relative should refrain from sports until an electrocardiogram (ECG) and echocardiography are performed. Hypertrophic cardiomyopathy (HCM)
can lead to fatal left ventricular outflow tract obstruction and ventricular arrhythmias. HCM is the most common cause of sudden death in an otherwise healthy young individual.
Cardiovasc
ular
System
Trisomy 18 (Edwards syndrome) is characterized by micrognathia, microcephaly, rocker-bottom feet, overlapping fingers, and absent palmar creases. Ventricular septal defect is common in these patients
and presents with a holosystolic murmur at the left lower sternal border.
Cardiovasc
ular
System
Tetralogy of Fallot presents with hypercyanotic ‘tet’ spells due to obstruction of the right ventricular outflow tract during exertion. The harsh crescendo-decrescendo systolic murmur over the left upper sternal
border reflects turbulence at the stenotic pulmonary artery.
Biostatistic
s&
Epidemiolo
gy
Analysis of variance (ANOVA) compares the means of independent groups and determines only whether at least 2 groups means differ. Nonoverlapping confidence intervals always imply a statistically
significant difference between groups; however, the opposite is not necessarily true.
Biostatistic
s&
Epidemiolo
gy
Experimental studies (e.g. randomized control trials) can help establish causal relationships whereas observational studies (e.g. case series) only suggest associations. Results of observational studies do
not provide enough scientific evidence to make clinical decisions (e.g. treating patients with new drugs or therapies).
Allergy &
Immunolog
y
B-cell defects typically present with sinopulmonary infections after age 4-6 months, whereas T-cell defects present with opportunistic infections (e.g. Pneumocystis jirovecii) and failure to thrive in early
infancy. Ataxia-telangiectasia is an example of a combined B- and T-cell immunodeficiency, and cerebellar ataxia and oculocutaneous telangiectasias are classic findings.
Allergy &
Immunolog
y
Hyper-IgM syndrome is a primary immunodeficiency characterized by CD40 ligand deficiency. This results in impaired immunoglobulin class switching (i.e. elevated IgM, low IgA and IgG) and impaired
memory B-cell function, which prevents long-term immunity.
Allergy &
Immunolog
y
Leukocyte adhesion deficiency is due to a defect in CD18 antigen on neutrophils, which leads to impaired neutrophil migration. Patients have recurrent, nonpurulent skin and mucosal infections; impaired
wound healing; and leukocytosis with neutrophilia.
Allergy &
Immunolog
y
Hereditary angioedema (C1 inhibitor deficiency) should be suspected in a patient with recurrent episodes of edema (e.g. face, limbs, bowel, larynx), particularly with a positive family history. Low C4 on
complement testing is consistent with the diagnosis.
Allergy &
Immunolog
y
Patients with anaphylaxis should be admitted to the hospital when symptoms are protracted or severe (e.g. hypotension, upper airway edema, respiratory distress), or require multiple doses of epinephrine
to resolve. These patients are at increased risk of biphasic anaphylaxis (i.e. recurrence of symptoms after an initial period of resolution), which can be fatal.
Allergy &
Immunolog
y
Serum sickness-like reaction is usually triggered by antibiotic therapy (e.g. penicillin, sulfa drugs). It typically occurs in children 5-14 days after medication initiation and presents with low-grade fever,
urticarial rash, and arthralgia. Manifestations resolve completely as the medication is metabolized over days.
Allergy &
Immunolog
y
Common variable immunodeficiency is characterized by decreased immunoglobulin production due to impaired differentiation of B cells into plasma cells. Patients typically develop recurrent sinopulmonary
infections after puberty and have low IgG plus low IgA and/or IgM, as well as decreased antibody response to vaccines.
Allergy &
Immunolog
y
X-linked agammaglobulinemia should be suspected in a fully immunized child who has Haemophilus influenzae type b infection. Laboratory studies reveal low immunoglobulin levels with deficient antibody
response to vaccines as well as markedly reduced CD19+ B lymphocytes on flow cytometry.
Allergy &
Immunolog
y
X-linked agammaglobulinemia is an immunodeficiency characterized by impaired B-cell maturation and antibody production. Commonly associated conditions include recurrent sinopulmonary infections,
chronic enteroviral meningoencephalitis, and prolonged diarrheal illness.
Allergy &
Immunolog
y
Transient hypogammaglobulinemia of infancy is a self-limited disorder characterized by low IgG (but normal leukocytes and antibody response to vaccines) due to prolonged physiologic nadir (age > 6
months). Patients may be asymptomatic or have recurrent infections and atopic disease.
Allergy &
Immunolog
y
An infant without severe, refractory eczema or an IgE-mediated food allergy is considered low risk for developing food allergies, and early introduction of highly allergenic foods after age 4-6 months is
recommended.
Allergy &
Immunolog
y
Anaphylaxis is caused by IgE-mediated mast cell degranulation in response to an allergen. It can be diagnosed when acute allergic symptoms are present in > 2 organ systems (e.g. skin/mucosa,
gastrointestinal) after exposure to a likely allergen.
Allergy &
Immunolog
y
Common variable immunodeficiency (CVID) is caused by abnormal B-cell differentiation, leading to decreased immunoglobulin production. CVID typically presents in early adulthood or adolescence with
recurrent sinopulmonary and gastrointestinal (e.g. Giardia) infections, failure to thrive, and chronic pulmonary disease. Treatment is intravenous immunoglobulins.
Allergy &
Immunolog
y
Chronic granulomatous disease is an X-linked immunodeficiency disorder due to NADPH oxidase abnormalities, resulting in decreased formation of superoxide anions and susceptibility to infections such as
Staphylococcus aureus, Serratia, and fungi.
Allergy &
Immunolog
y
Severe combined immunodeficiency presents in infancy with severe infections, failure to thrive, and chronic diarrhea. Absence of T cells and dysfunctional B cells are diagnostic. Treatment requires urgent
stem cell transplantation.
Allergy &
Immunolog
y
Anaphylaxis is a severe allergic reaction characterized by hypotension or symptoms involving > 2 organ systems after exposure to an allergen. Foods are the most common trigger, and intramuscular
epinephrine is the first-line treatment.
Allergy &
Immunolog
y
Intramuscular epinephrine is the first-line treatment for anaphylaxis, and additional doses may be required for refractory symptoms. Patients with anaphylaxis to Hymenoptera stings should be referred to an
allergist for venom immunotherapy.
Allergy &
Immunolog
y
Chronic granulomatous disease is caused by impaired intracellular killing by phagocytes. Pneumonia, cutaneous abscesses, and suppurative adenitis are common. Diagnosis is made by neutrophil function
testing (e.g. dihydrorhodamine 123 or nitroblue tetrazolium testing).
Allergy &
Immunolog
y
Preterm infants should receive routine immunizations according to chronologic age rather than age corrected for gestation. Live virus vaccines are withheld in immunocompromised patients, but mild
intercurrent illness is not a contraindication to vaccination.
Allergy &
Immunolog
y
Anaphylaxis, unstable neurologic disorders, and encephalopathy (e.g. coma, decreased consciousness, prolonged seizures) within a week of administration of the diphtheria-tetanus-acellular pertussis
vaccine are contraindications for future administration of pertussis-containing vaccines. However, uncomplicated seizures are not.
Allergy &
Leukocyte adhesion deficiency presents with delayed umbilical cord separation, recurrent skin and mucosal bacterial infections (without purulence), and severe periodontal disease. Marked leukocytosis with
Immunolog
y
neutrophil predominance is common.
Allergy &
Immunolog
y
Selective IgA deficiency is the most common primary immune deficiency, and can present with recurrent sinopulmonary and gastrointestinal infections as well as atopic and autoimmune disease. With
severe deficiency, production of anti-IgA antibodies can lead to anaphylaxis during blood transfusion.
Allergy &
Immunolog
y
Physicians must respect parents’ medical decision for their children, with the exception of refusal of life-saving treatment. Physicians must counsel parents about the health risks of refusing vaccination and
document the discussion in the medical chart. In addition, physicians should be aware of the vaccination exemption laws in their state.
Allergy &
Immunolog
y
Chronic granulomatous disease presents with recurrent cutaneous and pulmonary infections with catalase-positive organisms (e.g. Staphylococcus aureus, Serratia). Abnormal oxidative burst (e.g.
dihydrorhodamine testing) is diagnostic.
Allergy &
Immunolog
y
Severe combined immunodeficiency is a life-threatening condition caused by defective T cell maturation. Affected patients present with failure to thrive, recurrent infections (viral, fungal, bacterial), and
extremely low lymphocyte concentrations. Treatment requires stem cell transplantation.
Allergy &
Immunolog
y
Primary humoral immunodeficiency syndromes present with recurrent or severe sinopulmonary infections. Hyper-IgM syndrome is due to a defect in the CD40 ligand and is characterized by high IgM levels,
low IgG and IgA, and normal lymphocyte populations.
Allergy &
Immunolog
y
X-linked (or Bruton) agammaglobulinemia presents with recurrent sinopulmonary or gastrointestinal infections in late infancy. Serum immunoglobulins and B cells are markedly low to absent.
Allergy &
Immunolog
y
Hereditary angioedema results from deficiency or dysfunction of C1 inhibitor and is characterized by recurrent episodes of edema (e.g. face, limbs, genitalia, bowel, larynx) without associated pruritus or
urticaria.
Allergy &
Immunolog
y
X-linked (or Bruton) agammaglobulinemia is characterized by severely decreased immunoglobulins due to a failure of B-lymphocyte maturation. Affected patients have small or absent lymphoid tissue and
develop recurrent sinopulmonary and gastrointestinal infections once protection from transplacental maternal antibody wanes.